Biofelsefe — Genetik
NFA 2020 / Aziz Yardımlı



Biofelsefe — Genetik



🛑 GENETİK Zamançizgisi

Genetik bir yüzyıldan daha kısa bir süre  içinde Mendel’den DNAya ilerledi.

  • 1865 Gregor Mendel’in deneyleri kalıtımın daha sonra “genler” denilecek birimler  yoluyla iletildiği gösterdi.
  • 1869 Frederick Miescher DNAyı hücrelerden yalıttı ve ürünü ‘nüklein’ olarak adlandırdı.
  • 1879 Walter Flemming  hayvan hücresinin bölünmesi sırasında kromozomun davranışını gözlemledi ve bütün sürece mitoz adını verdi.
  • 1900 Mendel’in çalışması yeniden bulundu. De Vries, Correns ve von Tschermak’in çalışmaları Mendel’in kalıtım yasalarını fiziksel bağlamda yeniden doğruladı.
  • 1902 Kromozom Kalıtım Kuramı. Walter Sutton mitoz sırasında kromozomların ayrılmasının Mendel’in ayrılma modeline uygun düştüğünü gözledi.
  • 1909 Wilhelm Johannsen Mendel’in kalıtım birimini betimlemek için “gen” sözcüğünü önerdi. Ayrıca bir bireyin kalıtımsal özellikleri ve dış görünüşü arasındaki ayrımı belirtmek için genotip ve fenotip terimlerini kullandı.
  • 1911 Thomas Hunt Morgan kromozomların genleri taşıdığını buldu ve genetik bağlantıyı saptadı.
  • 1941 George Beadle ve Edward Tatum’un deneyleri bir genin bir enzimin oluşumunu yönettiği hipotezine götürdü.
  • 1943 William Astbury DNAnın ilk X-ışını kırınım kalıbını elde ederek molekülün düzenli bir döngüsel yapı taşıdığını ve nükleotid bazların birbiri üzerine yığıldığı görüşünü ileri sürdü.
  • 1944 Oswald Avery, Colin MacLeod, ve Maclyn McCarty hücrelerin özelliklerini proteinlerin değil DNAnın dönüştürebileceğini gösterdiler.
  • 1944 Barbara McClintock genlerin kromozomlar üzerinde yer değiştirebileceğini  gösterdi (transposonlar).
  • 1951 Rosalind Franklin DNAnın sarmal şeklini gösteren seçik X-ışını imgesini yakaladı.
  • 1953 Franklin’in çalışması üzerine dayanarak, Francis H. Crick ve James D. Watson DNAnın çifte sarmal yapısını saptadılar.
  • 2002 Genom Taslağı tamamlandı.
  • 2003 İnsan Genom Dizilendirmesi tamamlandı (%99.99 doğruluk ile).



📹 How Mendel's pea plants helped us understand genetics / TED-Ed. (VİDEO)

📹 How Mendel’s pea plants helped us understand genetics / TED-Ed. (LINK)

Each father and mother pass down traits to their children, who inherit combinations of their dominant or recessive alleles. But how do we know so much about genetics today? Hortensia Jiménez Díaz explains how studying pea plants revealed why you may have blue eyes.


📹 Genetics & Cell Division Keyword Definitions / FuseSchool (VİDEO)

📹 Genetics & Cell Division Keyword Definitions / FuseSchool (LINK)

Learn exactly what these different terms mean, that you will come across in genetics and cell division: Gamete, Chromosome, Gene, Allele, Dominant, Recessive, Homozygous, Heterozygous, Genotype, Phenotype, Haploid & Diploid.


📹 18 Things You Should Know About Genetics / Genome BC (VİDEO)

📹 18 Things You Should Know About Genetics / Genome BC (LINK)

18 Things You Should Know About Genetics is an animated film that presents fundamental background information about genetics, as well as offering some quirky but interesting facts about DNA, genes and genetics. It was created to be an upbeat, fun educational short film to initiate and draw interest to this sometimes daunting and seemingly complex subject matter.


📹 Genetics / Bozeman Science (VİDEO)

📹 Genetics / Bozeman Science (LINK)

Paul Andersen reviews the concepts discovered by Gregor Mendel.



📹 18 Things You Should Know About Genetics / Genome BC (VİDEO)

📹 18 Things You Should Know About Genetics / Genome BC (LINK)

18 Things You Should Know About Genetics is an animated film that presents fundamental background information about genetics, as well as offering some quirky but interesting facts about DNA, genes and genetics. It was created to be an upbeat, fun educational short film to initiate and draw interest to this sometimes daunting and seemingly complex subject matter.


📹 Genotypes and Phenotypes / Bozeman Science (VİDEO)

📹 Genotypes and Phenotypes / Bozeman Science (LINK)

Paul Andersen explains how changes in the genotype of an individual can affect the phenotype. He begins with genotype:phenotype::letters:story analogy. He explains how mutations can be neutral, beneficial or harmful. He also explains how mistakes in the cell cycle can lead to disorder, sterility or new species.


📹 Solving Genetics Problems / ThePenguinProf (VİDEO)

📹 Solving Genetics Problems / ThePenguinProf (LINK)

Help with basic genetics problems, including the use of the Punnett square and rules of probability to solve monohybrid, dihybrid and even - wait for it - YES, the dreaded trihybrid cross! Unions and intersections, autosomal dominant, autosomal recessive and even X-linked recessive inheritance... plus even some relationship advice on the side. All in one video? You bet!


📹 Genetics 101 / National Geographic (VİDEO)

📹 Genetics 101 / National Geographic (LINK)

What is a genome, and how are traits passed from generation to generation? Learn how pea plants helped launch the study of genetics and how the field of genetics research has evolved over time.




  Genetics (B)

Genetics (B)

Genetics (B)



Introduction (B)

Genetics, study of heredity in general and of genes in particular. Genetics forms one of the central pillars of biology and overlaps with many other areas, such as agriculture, medicine, and biotechnology.

Since the dawn of civilization, humankind has recognized the influence of heredity and applied its principles to the improvement of cultivated crops and domestic animals. A Babylonian tablet more than 6,000 years old, for example, shows pedigrees of horses and indicates possible inherited characteristics. Other old carvings show cross-pollination of date palm trees. Most of the mechanisms of heredity, however, remained a mystery until the 19th century, when genetics as a systematic science began.

Genetics arose out of the identification of genes, the fundamental units responsible for heredity. Genetics may be defined as the study of genes at all levels, including the ways in which they act in the cell and the ways in which they are transmitted from parents to offspring. Modern genetics focuses on the chemical substance that genes are made of, called deoxyribonucleic acid, or DNA, and the ways in which it affects the chemical reactions that constitute the living processes within the cell. Gene action depends on interaction with the environment. Green plants, for example, have genes containing the information necessary to synthesize the photosynthetic pigment chlorophyll that gives them their green colour. Chlorophyll is synthesized in an environment containing light because the gene for chlorophyll is expressed only when it interacts with light. If a plant is placed in a dark environment, chlorophyll synthesis stops because the gene is no longer expressed.

Genetics as a scientific discipline stemmed from the work of Gregor Mendel in the middle of the 19th century. Mendel suspected that traits were inherited as discrete units, and, although he knew nothing of the physical or chemical nature of genes at the time, his units became the basis for the development of the present understanding of heredity. All present research in genetics can be traced back to Mendel’s discovery of the laws governing the inheritance of traits. The word genetics was introduced in 1905 by English biologist William Bateson, who was one of the discoverers of Mendel’s work and who became a champion of Mendel’s principles of inheritance.


Historical Background

Ancient theories of pangenesis and blood in heredity

Ancient theories of pangenesis and blood in heredity (B)

Although scientific evidence for patterns of genetic inheritance did not appear until Mendel’s work, history shows that humankind must have been interested in heredity long before the dawn of civilization. Curiosity must first have been based on human family resemblances, such as similarity in body structure, voice, gait, and gestures. Such notions were instrumental in the establishment of family and royal dynasties. Early nomadic tribes were interested in the qualities of the animals that they herded and domesticated and, undoubtedly, bred selectively. The first human settlements that practiced farming appear to have selected crop plants with favourable qualities. Ancient tomb paintings show racehorse breeding pedigrees containing clear depictions of the inheritance of several distinct physical traits in the horses. Despite this interest, the first recorded speculations on heredity did not exist until the time of the ancient Greeks; some aspects of their ideas are still considered relevant today.

Hippocrates (c. 460-c. 375 BCE), known as the father of medicine, believed in the inheritance of acquired characteristics, and, to account for this, he devised the hypothesis known as pangenesis. He postulated that all organs of the body of a parent gave off invisible “seeds,” which were like miniaturized building components and were transmitted during sexual intercourse, reassembling themselves in the mother’s womb to form a baby.

Aristotle (384-322 BCE) emphasized the importance of blood in heredity. He thought that the blood supplied generative material for building all parts of the adult body, and he reasoned that blood was the basis for passing on this generative power to the next generation. In fact, he believed that the male’s semen was purified blood and that a woman’s menstrual blood was her equivalent of semen. These male and female contributions united in the womb to produce a baby. The blood contained some type of hereditary essences, but he believed that the baby would develop under the influence of these essences, rather than being built from the essences themselves.

Aristotle’s ideas about the role of blood in procreation were probably the origin of the still prevalent notion that somehow the blood is involved in heredity. Today people still speak of certain traits as being “in the blood” and of “blood lines” and “blood ties.” The Greek model of inheritance, in which a teeming multitude of substances was invoked, differed from that of the Mendelian model. Mendel’s idea was that distinct differences between individuals are determined by differences in single yet powerful hereditary factors. These single hereditary factors were identified as genes. Copies of genes are transmitted through sperm and egg and guide the development of the offspring. Genes are also responsible for reproducing the distinct features of both parents that are visible in their children.


Preformation and natural selection

Preformation and natural selection (B)

In the two millennia between the lives of Aristotle and Mendel, few new ideas were recorded on the nature of heredity. In the 17th and 18th centuries the idea of preformation was introduced. Scientists using the newly developed microscopes imagined that they could see miniature replicas of human beings inside sperm heads. French biologist Jean-Baptiste Lamarck invoked the idea of “the inheritance of acquired characters,” not as an explanation for heredity but as a model for evolution. He lived at a time when the fixity of species was taken for granted, yet he maintained that this fixity was only found in a constant environment. He enunciated the law of use and disuse, which states that when certain organs become specially developed as a result of some environmental need, then that state of development is hereditary and can be passed on to progeny. He believed that in this way, over many generations, giraffes could arise from deerlike animals that had to keep stretching their necks to reach high leaves on trees.

British naturalist Alfred Russel Wallace originally postulated the theory of evolution by natural selection. However, Charles Darwin’s observations during his circumnavigation of the globe aboard the HMS Beagle (1831–36) provided evidence for natural selection and his suggestion that humans and animals shared a common ancestry. Many scientists at the time believed in a hereditary mechanism that was a version of the ancient Greek idea of pangenesis, and Darwin’s ideas did not appear to fit with the theory of heredity that sprang from the experiments of Mendel.


The work of Mendel

The work of Mendel (B)

Before Gregor Mendel, theories for a hereditary mechanism were based largely on logic and speculation, not on experimentation. In his monastery garden, Mendel carried out a large number of cross-pollination experiments between variants of the garden pea, which he obtained as pure-breeding lines. He crossed peas with yellow seeds to those with green seeds and observed that the progeny seeds (the first generation, F1) were all yellow. When the F1 individuals were self-pollinated or crossed among themselves, their progeny (F2) showed a ratio of 3:1 (3/4 yellow and 1/4 green). He deduced that, since the F2 generation contained some green individuals, the determinants of greenness must have been present in the F1 generation, although they were not expressed because yellow is dominant over green. From the precise mathematical 3:1 ratio (of which he found several other examples), he deduced not only the existence of discrete hereditary units (genes) but also that the units were present in pairs in the pea plant and that the pairs separated during gamete formation. Hence, the two original lines of pea plants were proposed to be YY (yellow) and yy (green). The gametes from these were Y and y, thereby producing an F1 generation of Yy that were yellow in colour because of the dominance of Y. In the F1 generation, half the gametes were Y and the other half were y, making the F2 generation produced from random mating 1/4 Yy, 1/2 YY, and 1/4 yy, thus explaining the 3:1 ratio. The forms of the pea colour genes, Y and y, are called alleles.

Mendel also analyzed pure lines that differed in pairs of characters, such as seed colour (yellow versus green) and seed shape (round versus wrinkled). The cross of yellow round seeds with green wrinkled seeds resulted in an F1 generation that were all yellow and round, revealing the dominance of the yellow and round traits. However, the F2 generation produced by self-pollination of F1 plants showed a ratio of 9:3:3:1 (9/16 yellow round, 3/16 yellow wrinkled, 3/16 green round, and 1/16 green wrinkled; note that a 9:3:3:1 ratio is simply two 3:1 ratios combined). From this result and others like it, he deduced the independent assortment of separate gene pairs at gamete formation.

Mendel’s success can be attributed in part to his classic experimental approach. He chose his experimental organism well and performed many controlled experiments to collect data. From his results, he developed brilliant explanatory hypotheses and went on to test these hypotheses experimentally. Mendel’s methodology established a prototype for genetics that is still used today for gene discovery and understanding the genetic properties of inheritance.


How the gene idea became reality

How the gene idea became reality (B)

Strands of human chromosomes.

Mendel’s genes were only hypothetical entities, factors that could be inferred to exist in order to explain his results. The 20th century saw tremendous strides in the development of the understanding of the nature of genes and how they function. Mendel’s publications lay unmentioned in the research literature until 1900, when the same conclusions were reached by several other investigators. Then there followed hundreds of papers showing Mendelian inheritance in a wide array of plants and animals, including humans. It seemed that Mendel’s ideas were of general validity. Many biologists noted that the inheritance of genes closely paralleled the inheritance of chromosomes during nuclear divisions, called meiosis, that occur in the cell divisions just prior to gamete formation.


The discovery of linked genes

The discovery of linked genes (B)

📹 Chromosome (LINK)

Chromosomes carry hereditary information in the form of genes.
It seemed that genes were parts of chromosomes. In 1910 this idea was strengthened through the demonstration of parallel inheritance of certain Drosophila (a type of fruit fly) genes on sex-determining chromosomes by American zoologist and geneticist Thomas Hunt Morgan. Morgan and one of his students, Alfred Henry Sturtevant, showed not only that certain genes seemed to be linked on the same chromosome but that the distance between genes on the same chromosome could be calculated by measuring the frequency at which new chromosomal combinations arose (these were proposed to be caused by chromosomal breakage and reunion, also known as crossing over). In 1916 another student of Morgan’s, Calvin Bridges, used fruit flies with an extra chromosome to prove beyond reasonable doubt that the only way to explain the abnormal inheritance of certain genes was if they were part of the extra chromosome. American geneticist Hermann Joseph Müller showed that new alleles (called mutations) could be produced at high frequencies by treating cells with X-rays, the first demonstration of an environmental mutagenic agent (mutations can also arise spontaneously). In 1931 American botanist Harriet Creighton and American scientist Barbara McClintock demonstrated that new allelic combinations of linked genes were correlated with physically exchanged chromosome parts.
Sex-linked inheritance
Sex-linked inheritance of white eyes in Drosophila flies.


Early molecular genetics

Early molecular genetics (B)

In 1908 British physician Archibald Garrod proposed the important idea that the human disease alkaptonuria, and certain other hereditary diseases, were caused by inborn errors of metabolism, suggesting for the first time that linked genes had molecular action at the cell level. Molecular genetics did not begin in earnest until 1941 when American geneticist George Beadle and American biochemist Edward Tatum showed that the genes they were studying in the fungus Neurospora crassa acted by coding for catalytic proteins called enzymes. Subsequent studies in other organisms extended this idea to show that genes generally code for proteins. Soon afterward, American bacteriologist Oswald Avery, Canadian American geneticist Colin M. MacLeod, and American biologist Maclyn McCarty showed that bacterial genes are made of DNA, a finding that was later extended to all organisms.


DNA and the genetic code

DNA and the genetic code (B)

📹 DNA’s double helix structure (LINK)

James Watson and Francis Crick revolutionized the study of genetics when they discovered the structure of DNA.

A major landmark was attained in 1953 when American geneticist and biophysicist James D. Watson and British biophysicists Francis Crick and Maurice Wilkins devised a double helix model for DNA structure. Their breakthrough was made possible by the work of British scientist Rosalind Franklin, whose X-ray diffraction studies of the DNA molecule shed light on its helical structure. The double helix model showed that DNA was capable of self-replication by separating its complementary strands and using them as templates for the synthesis of new DNA molecules. Each of the intertwined strands of DNA was proposed to be a chain of chemical groups called nucleotides, of which there were known to be four types. Because proteins are strings of amino acids, it was proposed that a specific nucleotide sequence of DNA could contain a code for an amino acid sequence and hence protein structure. In 1955 American molecular biologist Seymour Benzer, extending earlier studies in Drosophila, showed that the mutant sites within a gene could be mapped in relation to each other. His linear map indicated that the gene itself is a linear structure.

In 1958 the strand-separation method for DNA replication (called the semiconservative method) was demonstrated experimentally for the first time by American molecular biologist Matthew Meselson and American geneticist Franklin W. Stahl. In 1961 Crick and South African biologist Sydney Brenner showed that the genetic code must be read in triplets of nucleotides, called codons. American geneticist Charles Yanofsky showed that the positions of mutant sites within a gene matched perfectly the positions of altered amino acids in the amino acid sequence of the corresponding protein. In 1966 the complete genetic code of all 64 possible triplet coding units (codons), and the specific amino acids they code for, was deduced by American biochemists Marshall Nirenberg and Har Gobind Khorana. Subsequent studies in many organisms showed that the double helical structure of DNA, the mode of its replication, and the genetic code are the same in virtually all organisms, including plants, animals, fungi, bacteria, and viruses. In 1961 French biologist François Jacob and French biochemist Jacques Monod established the prototypical model for gene regulation by showing that bacterial genes can be turned on (initiating transcription into RNA and protein synthesis) and off through the binding action of regulatory proteins to a region just upstream of the coding region of the gene.


Recombinant DNA technology and the polymerase chain reaction

Recombinant DNA technology and the polymerase chain reaction (B)

Technical advances have played an important role in the advance of genetic understanding. In 1970 American microbiologists Daniel Nathans and Hamilton Othanel Smith discovered a specialized class of enzymes (called restriction enzymes) that cut DNA at specific nucleotide target sequences. That discovery allowed American biochemist Paul Berg in the early 1970s to make the first artificial recombinant DNA molecule by isolating DNA molecules from different sources, cutting them, and joining them together in a test tube. Shortly thereafter, American biochemists Herbert W. Boyer and Stanley N. Cohen came up with methods to produce recombinant plasmids (extragenomic circular DNA elements), which replicated naturally when inserted into bacterial cells. These advances allowed individual genes to be cloned (amplified to a high copy number) by splicing them into self-replicating DNA molecules, such as plasmids or viruses, and inserting these into living bacterial cells. From these methodologies arose the field of recombinant DNA technology that came to dominate molecular genetics. In 1977 two different methods were invented for determining the nucleotide sequence of DNA: one by American molecular biologists Allan Maxam and Walter Gilbert and the other by English biochemist Fred Sanger. Such technologies made it possible to examine the structure of genes directly by nucleotide sequencing, resulting in the confirmation of many of the inferences about genes originally made indirectly.

📹 DNA thermal cycler (LINK)

Specific segments of DNA are amplified (copied) in a laboratory using polymerase chain reaction (PCR) techniques.

In the 1970s Canadian biochemist Michael Smith revolutionized the art of redesigning genes by devising a method for inducing specifically tailored mutations at defined sites within a gene, creating a technique known as site-directed mutagenesis. In 1983 American biochemist Kary B. Mullis invented the polymerase chain reaction, a method for rapidly detecting and amplifying a specific DNA sequence without cloning it. In the last decade of the 20th century, progress in recombinant DNA technology and in the development of automated sequencing machines led to the elucidation of complete DNA sequences of several viruses, bacteria, plants, and animals. In 2001 the complete sequence of human DNA, approximately three billion nucleotide pairs, was made public.


Time Line Of Important Milestones In The History Of Genetics

Time Line Of Important Milestones In The History Of Genetics

Time Line Of Important Milestones In The History Of Genetics (B)

year event
1866 Austrian botanist Gregor Mendel published the results of his experiments with pea plants. His work later provided the mathematical foundation of the science of genetics.
1869 Swiss biochemist Johann Friedrich Miescher became the first to isolate nuclein—now known as DNA. Although he developed hypotheses explaining the role of nuclein in heredity, he ultimately concluded that one molecule alone could not provide the level of variation observed in nature within and between species.
1900 Mendel's experiments were rediscovered independently by Dutch botanist and geneticist Hugo de Vries, German botanist and geneticist Carl Erich Correns, and Austrian botanist Erich Tschermak von Seysenegg, giving rise to the modern science of genetics.
1928 English bacteriologist Frederick Griffith conducted experiments suggesting that bacteria are capable of transferring genetic information and that such transformation is heritable.
1931 American scientists Harriet B. Creighton and Barbara McClintock published a paper demonstrating that new allelic combinations of linked genes are correlated with physically exchanged chromosome parts. Their findings suggested that chromosomes form the basis of genetics.
1944 Canadian-born American bacteriologist Oswald Avery and American biologists Maclyn McCarty and Colin MacLeod reported that the transforming substance—the genetic material of the cell—was DNA.
1950 Austrian-born American biochemist Erwin Chargaff discovered that the components of DNA are paired in a 1:1 ratio. Thus, the amount of adenine (A) is always equal to the amount of thymine (T), and the amount of guanine (G) is always equal to the amount of cytosine (C).
1951 British scientists Rosalind Franklin, Maurice Wilkins, and Raymond Gosling conducted X-ray diffraction studies that provided images of the helical structure of DNA fibres.
1953 Using Chargaff's data and the X-ray images recorded by Franklin, Wilkins, and Gosling, British biophysicists James Watson and Francis Crick determined the molecular structure of DNA. Watson, Crick, and Wilkins shared the 1962 Nobel Prize for Physiology or Medicine for their discovery.
1960s Swiss microbiologist Werner Arber and American microbiologists Hamilton Othanel Smith and Daniel Nathans discovered restriction enzymes, which cleave DNA into fragments. The discovery, for which the three men shared the 1978 Nobel Prize for Physiology or Medicine, enabled scientists to manipulate genes by removing and inserting DNA sequences.
1970s American molecular biologists Allan M. Maxam and Walter Gilbert and English biochemist Frederick Sanger developed some of the first techniques for DNA sequencing. Gilbert and Sanger shared the 1980 Nobel Prize for Chemistry for their work.
1983 American biochemist Kary B. Mullis invented the polymerase chain reaction (PCR), a simple technique that allows a specific stretch of DNA to be copied billions of times in a few hours. Mullis received the 1993 Nobel Prize for Chemistry for his invention.
1990 The Human Genome Project (HGP) began. By the time of its completion in 2003, HGP researchers had successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the human genome.
2002 The International HapMap Project, which was designed to identify genetic variations contributing to human disease through the development of a haplotype (haploid genotype map of the human genome), began. By completion of Phase II of the project in 2007, scientists had data on some 3.1 million variations in the human genome.
2008 The 1000 Genomes Project, an international collaboration in which researchers aimed to sequence the genomes of a large number of people from different ethnic groups worldwide with the intent of creating a catalog of genetic variations, began. The project was completed in 2015.


Areas of study

Classical genetics

Classical genetics (B)

Classical genetics, which remains the foundation for all other areas in genetics, is concerned primarily with the method by which genetic traits—classified as dominant (always expressed), recessive (subordinate to a dominant trait), intermediate (partially expressed), or polygenic (due to multiple genes)—are transmitted in plants and animals. These traits may be sex-linked (resulting from the action of a gene on the sex, or X, chromosome) or autosomal (resulting from the action of a gene on a chromosome other than a sex chromosome). Classical genetics began with Mendel’s study of inheritance in garden peas and continues with studies of inheritance in many different plants and animals. Today a prime reason for performing classical genetics is for gene discovery—the finding and assembling of a set of genes that affects a biological property of interest.



Cytogenetics (B)

Cytogenetics, the microscopic study of chromosomes, blends the skills of cytologists, who study the structure and activities of cells, with those of geneticists, who study genes. Cytologists discovered chromosomes and the way in which they duplicate and separate during cell division at about the same time that geneticists began to understand the behaviour of genes at the cellular level. The close correlation between the two disciplines led to their combination.

Plant cytogenetics early became an important subdivision of cytogenetics because, as a general rule, plant chromosomes are larger than those of animals. Animal cytogenetics became important after the development of the so-called squash technique, in which entire cells are pressed flat on a piece of glass and observed through a microscope; the human chromosomes were numbered using this technique.

Today there are multiple ways to attach molecular labels to specific genes and chromosomes, as well as to specific RNAs and proteins, that make these molecules easily discernible from other components of cells, thereby greatly facilitating cytogenetics research.


Microbial genetics

Microbial genetics (B)

Microorganisms were generally ignored by the early geneticists because they are small in size and were thought to lack variable traits and the sexual reproduction necessary for a mixing of genes from different organisms. After it was discovered that microorganisms have many different physical and physiological characteristics that are amenable to study, they became objects of great interest to geneticists because of their small size and the fact that they reproduce much more rapidly than larger organisms. Bacteria became important model organisms in genetic analysis, and many discoveries of general interest in genetics arose from their study. Bacterial genetics is the centre of cloning technology.

Viral genetics is another key part of microbial genetics. The genetics of viruses that attack bacteria were the first to be elucidated. Since then, studies and findings of viral genetics have been applied to viruses pathogenic on plants and animals, including humans. Viruses are also used as vectors (agents that carry and introduce modified genetic material into an organism) in DNA technology.


Molecular genetics

Molecular genetics (B)

Molecular genetics is the study of the molecular structure of DNA, its cellular activities (including its replication), and its influence in determining the overall makeup of an organism. Molecular genetics relies heavily on genetic engineering (recombinant DNA technology), which can be used to modify organisms by adding foreign DNA, thereby forming transgenic organisms. Since the early 1980s, these techniques have been used extensively in basic biological research and are also fundamental to the biotechnology industry, which is devoted to the manufacture of agricultural and medical products. Transgenesis forms the basis of gene therapy, the attempt to cure genetic disease by addition of normally functioning genes from exogenous sources.



Genomics (B)

The development of the technology to sequence the DNA of whole genomes on a routine basis has given rise to the discipline of genomics, which dominates genetics research today. Genomics is the study of the structure, function, and evolutionary comparison of whole genomes. Genomics has made it possible to study gene function at a broader level, revealing sets of genes that interact to impinge on some biological property of interest to the researcher. Bioinformatics is the computer-based discipline that deals with the analysis of such large sets of biological information, especially as it applies to genomic information.


Population genetics

Population genetics (B)

The study of genes in populations of animals, plants, and microbes provides information on past migrations, evolutionary relationships and extents of mixing among different varieties and species, and methods of adaptation to the environment. Statistical methods are used to analyze gene distributions and chromosomal variations in populations.

Population genetics is based on the mathematics of the frequencies of alleles and of genetic types in populations. For example, the Hardy-Weinberg formula, p2 + 2pq + q2 = 1, predicts the frequency of individuals with the respective homozygous dominant (AA), heterozygous (Aa), and homozygous recessive (aa) genotypes in a randomly mating population. Selection, mutation, and random changes can be incorporated into such mathematical models to explain and predict the course of evolutionary change at the population level. These methods can be used on alleles of known phenotypic effect, such as the recessive allele for albinism, or on DNA segments of any type of known or unknown function.

Human population geneticists have traced the origins and migration and invasion routes of modern humans, Homo sapiens. DNA comparisons between the present peoples on the planet have pointed to an African origin of Homo sapiens. Tracing specific forms of genes has allowed geneticists to deduce probable migration routes out of Africa to the areas colonized today. Similar studies show to what degree present populations have been mixed by recent patterns of travel.


Behaviour genetics

Behaviour genetics (B)

Another aspect of genetics is the study of the influence of heredity on behaviour. Many aspects of animal behaviour are genetically determined and can therefore be treated as similar to other biological properties. This is the subject material of behaviour genetics, whose goal is to determine which genes control various aspects of behaviour in animals. Human behaviour is difficult to analyze because of the powerful effects of environmental factors, such as culture. Few cases of genetic determination of complex human behaviour are known. Genomics studies provide a useful way to explore the genetic factors involved in complex human traits such as behaviour.


Human genetics

Human genetics (B)

Some geneticists specialize in the hereditary processes of human genetics. Most of the emphasis is on understanding and treating genetic disease and genetically influenced ill health, areas collectively known as medical genetics. One broad area of activity is laboratory research dealing with the mechanisms of human gene function and malfunction and investigating pharmaceutical and other types of treatments. Since there is a high degree of evolutionary conservation between organisms, research on model organisms—such as bacteria, fungi, and fruit flies (Drosophila)—which are easier to study, often provides important insights into human gene function.

Many single-gene diseases, caused by mutant alleles of a single gene, have been discovered. Two well-characterized single-gene diseases include phenylketonuria (PKU) and Tay-Sachs disease. Other diseases, such as heart disease, schizophrenia, and depression, are thought to have more complex heredity components that involve a number of different genes. These diseases are the focus of a great deal of research that is being carried out today.

Another broad area of activity is clinical genetics, which centres on advising parents of the likelihood of their children being affected by genetic disease caused by mutant genes and abnormal chromosome structure and number. Such genetic counseling is based on examining individual and family medical records and on diagnostic procedures that can detect unexpressed, abnormal forms of genes. Counseling is carried out by physicians with a particular interest in this area or by specially trained nonphysicians.


Methods In Genetics

Experimental breeding

Experimental breeding (B)

Genetically diverse lines of organisms can be crossed in such a way to produce different combinations of alleles in one line. For example, parental lines are crossed, producing an F1 generation, which is then allowed to undergo random mating to produce offspring that have purebreeding genotypes (i.e., AA, bb, cc, or DD). This type of experimental breeding is the origin of new plant and animal lines, which are an important part of making laboratory stocks for basic research. When applied to commerce, transgenic commercial lines produced experimentally are called genetically modified organisms (GMOs). Many of the plants and animals used by humans today (e.g., cows, pigs, chickens, sheep, wheat, corn (maize), potatoes, and rice) have been bred in this way.


Cytogenetic techniques

Cytogenetic techniques (B)

Cytogenetics focuses on the microscopic examination of genetic components of the cell, including chromosomes, genes, and gene products. Older cytogenetic techniques involve placing cells in paraffin wax, slicing thin sections, and preparing them for microscopic study. The newer and faster squash technique involves squashing entire cells and studying their contents. Dyes that selectively stain various parts of the cell are used; the genes, for example, may be located by selectively staining the DNA of which they are composed. Radioactive and fluorescent tags are valuable in determining the location of various genes and gene products in the cell. Tissue-culture techniques may be used to grow cells before squashing; white blood cells can be grown from samples of human blood and studied with the squash technique. One major application of cytogenetics in humans is in diagnosing abnormal chromosomal complements such as Down syndrome (caused by an extra copy of chromosome 21) and Klinefelter syndrome (occurring in males with an extra X chromosome). Some diagnosis is prenatal, performed on cell samples from amniotic fluid or the placenta.


Biochemical techniques

Biochemical techniques (B)

Biochemistry is carried out at the cellular or subcellular level, generally on cell extracts. Biochemical methods are applied to the main chemical compounds of genetics—notably DNA, RNA, and protein. Biochemical techniques are used to determine the activities of genes within cells and to analyze substrates and products of gene-controlled reactions. In one approach, cells are ground up and the substituent chemicals are fractionated for further analysis. Special techniques (e.g., chromatography and electrophoresis) are used to separate the components of proteins so that inherited differences in their structures can be revealed. For example, more than 100 different kinds of human hemoglobin molecules have been identified. Radioactively tagged compounds are valuable in studying the biochemistry of whole cells. For example, thymine is a compound found only in DNA; if radioactive thymine is placed in a tissue-culture medium in which cells are growing, genes use it to duplicate themselves. When cells containing radioactive thymine are analyzed, the results show that, during duplication, the DNA molecule splits in half, and each half synthesizes its missing components.


Physiological techniques

Physiological techniques (B)

Physiological techniques, directed at exploring functional properties or organisms, are also used in genetic investigations. In microorganisms, most genetic variations involve some important cell function. Some strains of one bacterium ( Escherichia coli), for example, are able to synthesize the vitamin thiamin from simple compounds; others, which lack an enzyme necessary for this synthesis, cannot survive unless thiamin is already present. The two strains can be distinguished by placing them on a thiamin-free mixture: those that grow have the gene for the enzyme, those that fail to grow do not. The technique also is applied to human cells, since many inherited human abnormalities are caused by a faulty gene that fails to produce a vital enzyme; albinism, which results from an inability to produce the pigment melanin in the skin, hair, or iris of the eyes, is an example of an enzyme deficiency in man.


Molecular techniques

Molecular techniques (B)

Although overlapping with biochemical techniques, molecular genetics techniques are deeply involved with the direct study of DNA. This field has been revolutionized by the invention of recombinant DNA technology. The DNA of any gene of interest from a donor organism (such as a human) can be cut out of a chromosome and inserted into a vector to make recombinant DNA, which can then be amplified and manipulated, studied, or used to modify the genomes of other organisms by transgenesis. A fundamental step in recombinant DNA technology is amplification. This is carried out by inserting the recombinant DNA molecule into a bacterial cell, which replicates and produces many copies of the bacterial genome and the recombinant DNA molecule (constituting a DNA clone). A collection of large numbers of clones of recombinant donor DNA molecules is called a genomic library. Such libraries are the starting point for sequencing entire genomes such as the human genome. Today genomes can be scanned for small molecular variants called single nucleotide polymorphisms, or SNPs (“snips”), which act as chromosomal tags to associated specific regions of DNA that have a property of interest and may be involved in a human disease or disorder.

Recombinant DNA
Steps involved in the engineering of a recombinant DNA molecule.


Immunological techniques

Immunological techniques (B)

Many substances (e.g., proteins) are antigenic; i.e., when introduced into a vertebrate body, they stimulate the production of specific proteins called antibodies. Various antigens exist in red blood cells, including those that make up the major blood groups of man (A, B, AB, O). These and other antigens are genetically determined; their study constitutes immunogenetics. Blood antigens of man include inherited variations, and the particular combination of antigens in an individual is almost as unique as fingerprints and has been used in such areas as paternity testing (although this approach has been largely supplanted by DNA-based techniques).

Immunological techniques are used in blood group determinations in blood transfusions, in organ transplants, and in determining Rhesus incompatibility in childbirth. Specific antigens of the human leukocyte antigen (HLA) genes are correlated with human diseases and disease predispositions. Antibodies also have a genetic basis, and their seemingly endless ability to match any antigen presented is based on special types of DNA shuffling processes between antibody genes. Immunology is also useful in identifying specific recombinant DNA clones that synthesize a specific protein of interest.


Mathematical techniques

Mathematical techniques (B)

Because much of genetics is based on quantitative data, mathematical techniques are used extensively in genetics. The laws of probability are applicable to crossbreeding and are used to predict frequencies of specific genetic constitutions in offspring. Geneticists also use statistical methods to determine the significance of deviations from expected results in experimental analyses. In addition, population genetics is based largely on mathematical logic—for example, the Hardy-Weinberg equilibrium and its derivatives (see above).

Bioinformatics uses computer-centred statistical techniques to handle and analyze the vast amounts of information accumulating from genome sequencing projects. The computer program scans the DNA looking for genes, determining their probable function based on other similar genes, and comparing different DNA molecules for evolutionary analysis. Bioinformatics has made possible the discipline of systems biology, treating and analyzing the genes and gene products of cells as a complete and integrated system.


Applied Genetics


Medicine (B)

Genetic techniques are used in medicine to diagnose and treat inherited human disorders. Knowledge of a family history of conditions such as cancer or various disorders may indicate a hereditary tendency to develop these afflictions. Cells from embryonic tissues reveal certain genetic abnormalities, including enzyme deficiencies, that may be present in newborn babies, thus permitting early treatment. Many countries require a blood test of newborn babies to determine the presence of an enzyme necessary to convert an amino acid, phenylalanine, into simpler products. Phenylketonuria (PKU), which results from lack of the enzyme, causes permanent brain damage if not treated soon after birth. Many different types of human genetic diseases can be detected in embryos as young as 12 weeks; the procedure involves removal and testing of a small amount of fluid from around the embryo (called amniocentesis) or of tissue from the placenta (called chorionic villus sampling).

Gene therapy is based on modification of defective genotypes by adding functional genes made through recombinant DNA technology. Bioinformatics is being used to “mine” the human genome for gene products that might be candidates for designer pharmaceutical drugs.


Agriculture and animal husbandry

Agriculture and animal husbandry (B)

Agriculture and animal husbandry apply genetic techniques to improve plants and animals. Breeding analysis and transgenic modification using recombinant DNA techniques are routinely used. Animal breeders use artificial insemination to propagate the genes of prize bulls. Prize cows can transmit their genes to hundreds of offspring by hormone treatment, which stimulates the release of many eggs that are collected, fertilized, and transplanted to foster mothers. Several types of mammals can be cloned, meaning that multiple identical copies can be produced of certain desirable types.

Dolly the sheep; cloning
Dolly the sheep was successfully cloned in 1996 by fusing the nucleus from a mammary-gland cell of a Finn Dorset ewe into an enucleated egg cell taken from a Scottish Blackface ewe. Carried to term in the womb of another Scottish Blackface ewe, Dolly was a genetic copy of the Finn Dorset ewe.

Plant geneticists use special techniques to produce new species, such as hybrid grains (i.e., produced by crossing wheat and rye), and plants resistant to destruction by insect and fungal pests.

Plant breeders use the techniques of budding and grafting to maintain desirable gene combinations originally obtained from crossbreeding. Transgenic plant cells can be made into plants by growing the cells on special hormones. The use of the chemical compound colchicine, which causes chromosomes to double in number, has resulted in many new varieties of fruits, vegetables, and flowers. Many transgenic lines of crop plants are commercially advantageous and are being introduced into the market.



Industry (B)

Various industries employ geneticists; the brewing industry, for example, may use geneticists to improve the strains of yeast that produce alcohol. The pharmaceutical industry has developed strains of molds, bacteria, and other microorganisms high in antibiotic yield. Penicillin and cyclosporin from fungi, and streptomycin and ampicillin from bacteria, are some examples.

Biotechnology, based on recombinant DNA technology, is now extensively used in industry. “Designer” lines of transgenic bacteria, animals, or plants capable of manufacturing some commercial product are made and used routinely. Such products include pharmaceutical drugs and industrial chemicals such as citric acid.



  Genetics (W)

Genetics (W)

Genetics (W)

Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.

Though heredity had been observed for millennia, Gregor Mendel, a scientist and Augustinian friar working in the 19th century, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring. He observed that organisms (pea plants) inherit traits by way of discrete “units of inheritance.” This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.

Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded beyond inheritance to studying the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance) , and within the context of a population. Genetics has given rise to a number of subfields, including molecular genetics, epigenetics and population genetics. Organisms studied within the broad field span the domains of life (archaea, bacteria, and eukarya) .

Genetic processes work in combination with an organism's environment and experiences to influence development and behavior, often referred to as nature versus nurture. The intracellular or extracellular environment of a living cell or organism may switch gene transcription on or off. A classic example is two seeds of genetically identical corn, one placed in a temperate climate and one in an arid climate (lacking sufficient waterfall or rain). While the average height of the two corn stalks may be genetically determined to be equal, the one in the arid climate only grows to half the height of the one in the temperate climate due to lack of water and nutrients in its environment.



Etymology (W)

The word genetics stems from the ancient Greek γενετικός genetikos meaning "genitive"/"generative", which in turn derives from γένεσις genesis meaning "origin"




History (W)

Main article: History of genetics

The observation that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding. The modern science of genetics, seeking to understand this process, began with the work of the Augustinian friar Gregor Mendel in the mid-19th century.

Prior to Mendel, Imre Festetics, a Hungarian noble, who lived in Kőszeg before Mendel, was the first who used the word "genetics." He described several rules of genetic inheritance in his work The genetic law of the Nature (Die genetische Gesätze der Natur, 1819). His second law is the same as what Mendel published. In his third law, he developed the basic principles of mutation (he can be considered a forerunner of Hugo de Vries) .


Blending inheritance leads to the averaging out of every characteristic, which as the engineer Fleeming Jenkin pointed out, makes evolution by natural selection impossible.
Other theories of inheritance preceded Mendel's work. A popular theory during the 19th century, and implied by Charles Darwin's 1859 On the Origin of Species, was blending inheritance: the idea that individuals inherit a smooth blend of traits from their parents. Mendel's work provided examples where traits were definitely not blended after hybridization, showing that traits are produced by combinations of distinct genes rather than a continuous blend. Blending of traits in the progeny is now explained by the action of multiple genes with quantitative effects. Another theory that had some support at that time was the inheritance of acquired characteristics: the belief that individuals inherit traits strengthened by their parents. This theory (commonly associated with Jean-Baptiste Lamarck) is now known to be wrong—the experiences of individuals do not affect the genes they pass to their children, although evidence in the field of epigenetics has revived some aspects of Lamarck's theory. Other theories included the pangenesis of Charles Darwin (which had both acquired and inherited aspects) and Francis Galton's reformulation of pangenesis as both particulate and inherited.


Mendelian and classical genetics

Mendelian and classical genetics (W)

Modern genetics started with Mendel's studies of the nature of inheritance in plants. In his paper "Versuche über Pflanzenhybriden" ("Experiments on Plant Hybridization"), presented in 1865 to the Naturforschender Verein (Society for Research in Nature) in Brünn, Mendel traced the inheritance patterns of certain traits in pea plants and described them mathematically. Although this pattern of inheritance could only be observed for a few traits, Mendel's work suggested that heredity was particulate, not acquired, and that the inheritance patterns of many traits could be explained through simple rules and ratios.

Morgan's observation of sex-linked inheritance of a mutation causing white eyes in Drosophila led him to the hypothesis that genes are located upon chromosomes.

The importance of Mendel's work did not gain wide understanding until 1900, after his death, when Hugo de Vries and other scientists rediscovered his research. William Bateson, a proponent of Mendel's work, coined the word genetics in 1905 (the adjective genetic, derived from the Greek word genesis — γένεσις, "origin", predates the noun and was first used in a biological sense in 1860). Bateson both acted as a mentor and was aided significantly by the work of other scientists from Newnham College at Cambridge, specifically the work of Becky Saunders, Nora Darwin Barlow, and Muriel Wheldale Onslow. Bateson popularized the usage of the word genetics to describe the study of inheritance in his inaugural address to the Third International Conference on Plant Hybridization in London in 1906.

After the rediscovery of Mendel's work, scientists tried to determine which molecules in the cell were responsible for inheritance. In 1900, Nettie Stevens began studying the mealworm. Over the next 11 years, she discovered that females only had the X chromosome and males had both X and Y chromosomes. She was able to conclude that sex is a chromosomal factor and is determined by the male. In 1911, Thomas Hunt Morgan argued that genes are on chromosomes, based on observations of a sex-linked white eye mutation in fruit flies. In 1913, his student Alfred Sturtevant used the phenomenon of genetic linkage to show that genes are arranged linearly on the chromosome.


Molecular genetics

Molecular genetics (W)

DNA, the molecular basis for biological inheritance. Each strand of DNA is a chain of nucleotides, matching each other in the center to form what look like rungs on a twisted ladder.

Although genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA, and scientists did not know which of the two is responsible for inheritance. In 1928, Frederick Griffith discovered the phenomenon of transformation (see Griffith's experiment) : dead bacteria could transfer genetic material to "transform" other still-living bacteria. Sixteen years later, in 1944, the Avery–MacLeod–McCarty experiment identified DNA as the molecule responsible for transformation. The role of the nucleus as the repository of genetic information in eukaryotes had been established by Hämmerling in 1943 in his work on the single celled alga Acetabularia. The Hershey–Chase experiment in 1952 confirmed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance.

James Watson and Francis Crick determined the structure of DNA in 1953, using the X-ray crystallography work of Rosalind Franklin and Maurice Wilkins that indicated DNA has a helical structure (i.e., shaped like a corkscrew). Their double-helix model had two strands of DNA with the nucleotides pointing inward, each matching a complementary nucleotide on the other strand to form what look like rungs on a twisted ladder. This structure showed that genetic information exists in the sequence of nucleotides on each strand of DNA. The structure also suggested a simple method for replication: if the strands are separated, new partner strands can be reconstructed for each based on the sequence of the old strand. This property is what gives DNA its semi-conservative nature where one strand of new DNA is from an original parent strand.

Although the structure of DNA showed how inheritance works, it was still not known how DNA influences the behavior of cells. In the following years, scientists tried to understand how DNA controls the process of protein production. It was discovered that the cell uses DNA as a template to create matching messenger RNA, molecules with nucleotides very similar to DNA. The nucleotide sequence of a messenger RNA is used to create an amino acid sequence in protein; this translation between nucleotide sequences and amino acid sequences is known as the genetic code.

With the newfound molecular understanding of inheritance came an explosion of research. A notable theory arose from Tomoko Ohta in 1973 with her amendment to the neutral theory of molecular evolution through publishing the nearly neutral theory of molecular evolution. In this theory, Ohta stressed the importance of natural selection and the environment to the rate at which genetic evolution occurs. One important development was chain-termination DNA sequencing in 1977 by Frederick Sanger. This technology allows scientists to read the nucleotide sequence of a DNA molecule. In 1983, Kary Banks Mullis developed the polymerase chain reaction, providing a quick way to isolate and amplify a specific section of DNA from a mixture. The efforts of the Human Genome Project, Department of Energy, NIH, and parallel private efforts by Celera Genomics led to the sequencing of the human genome in 2003.


Features of inheritance

Discrete inheritance and Mendel's laws

Discrete inheritance and Mendel’s laws (W)

DNA, the molecular basis for biological inheritance. Each strand of DNA is a chain of nucleotides, matching each other in the center to form what look like rungs on a twisted ladder.
Main article: Mendelian inheritance

At its most fundamental level, inheritance in organisms occurs by passing discrete heritable units, called genes, from parents to offspring. This property was first observed by Gregor Mendel, who studied the segregation of heritable traits in pea plants. In his experiments studying the trait for flower color, Mendel observed that the flowers of each pea plant were either purple or white—but never an intermediate between the two colors. These different, discrete versions of the same gene are called alleles.

In the case of the pea, which is a diploid species, each individual plant has two copies of each gene, one copy inherited from each parent. Many species, including humans, have this pattern of inheritance. Diploid organisms with two copies of the same allele of a given gene are called homozygous at that gene locus, while organisms with two different alleles of a given gene are called heterozygous.

The set of alleles for a given organism is called its genotype, while the observable traits of the organism are called its phenotype. When organisms are heterozygous at a gene, often one allele is called dominant as its qualities dominate the phenotype of the organism, while the other allele is called recessive as its qualities recede and are not observed. Some alleles do not have complete dominance and instead have incomplete dominance by expressing an intermediate phenotype, or codominance by expressing both alleles at once.

When a pair of organisms reproduce sexually, their offspring randomly inherit one of the two alleles from each parent. These observations of discrete inheritance and the segregation of alleles are collectively known as Mendel's first law or the Law of Segregation.


Notation and diagrams

Notation and diagrams (W)

Genetic pedigree charts help track the inheritance patterns of traits.

Geneticists use diagrams and symbols to describe inheritance. A gene is represented by one or a few letters. Often a "+" symbol is used to mark the usual, non-mutant allele for a gene.

In fertilization and breeding experiments (and especially when discussing Mendel's laws) the parents are referred to as the "P" generation and the offspring as the "F1" (first filial) generation. When the F1 offspring mate with each other, the offspring are called the "F2" (second filial) generation. One of the common diagrams used to predict the result of cross-breeding is the Punnett square.

When studying human genetic diseases, geneticists often use pedigree charts to represent the inheritance of traits. These charts map the inheritance of a trait in a family tree.


Multiple gene interactions

Multiple gene interactions (W)

Human height is a trait with complex genetic causes. Francis Galton's data from 1889 shows the relationship between offspring height as a function of mean parent height.

Organisms have thousands of genes, and in sexually reproducing organisms these genes generally assort independently of each other. This means that the inheritance of an allele for yellow or green pea color is unrelated to the inheritance of alleles for white or purple flowers. This phenomenon, known as "Mendel's second law" or the "law of independent assortment," means that the alleles of different genes get shuffled between parents to form offspring with many different combinations. (Some genes do not assort independently, demonstrating genetic linkage, a topic discussed later in this article.)

Often different genes can interact in a way that influences the same trait. In the Blue-eyed Mary (Omphalodes verna), for example, there exists a gene with alleles that determine the color of flowers: blue or magenta. Another gene, however, controls whether the flowers have color at all or are white. When a plant has two copies of this white allele, its flowers are white—regardless of whether the first gene has blue or magenta alleles. This interaction between genes is called epistasis, with the second gene epistatic to the first.

Many traits are not discrete features (e.g. purple or white flowers) but are instead continuous features (e.g. human height and skin color) . These complex traits are products of many genes. The influence of these genes is mediated, to varying degrees, by the environment an organism has experienced. The degree to which an organism's genes contribute to a complex trait is called heritability. Measurement of the heritability of a trait is relative—in a more variable environment, the environment has a bigger influence on the total variation of the trait. For example, human height is a trait with complex causes. It has a heritability of 89% in the United States. In Nigeria, however, where people experience a more variable access to good nutrition and health care, height has a heritability of only 62%.


Molecular basis for inheritance

DNA and chromosomes

DNA and chromosomes (W)

The molecular structure of DNA. Bases pair through the arrangement of hydrogen bonding between the strands.
Main articles: DNA and Chromosome

The molecular basis for genes is deoxyribonucleic acid (DNA). DNA is composed of a chain of nucleotides, of which there are four types: adenine (A), cytosine (C), guanine (G), and thymine (T). Genetic information exists in the sequence of these nucleotides, and genes exist as stretches of sequence along the DNA chain. Viruses are the only exception to this rule—sometimes viruses use the very similar molecule RNA instead of DNA as their genetic material. Viruses cannot reproduce without a host and are unaffected by many genetic processes, so tend not to be considered living organisms.

Human height is a trait with complex genetic causes. Francis Galton's data from 1889 shows the relationship between offspring height as a function of mean parent height.

DNA normally exists as a double-stranded molecule, coiled into the shape of a double helix. Each nucleotide in DNA preferentially pairs with its partner nucleotide on the opposite strand: A pairs with T, and C pairs with G. Thus, in its two-stranded form, each strand effectively contains all necessary information, redundant with its partner strand. This structure of DNA is the physical basis for inheritance: DNA replication duplicates the genetic information by splitting the strands and using each strand as a template for synthesis of a new partner strand.

Genes are arranged linearly along long chains of DNA base-pair sequences. In bacteria, each cell usually contains a single circular genophore, while eukaryotic organisms (such as plants and animals) have their DNA arranged in multiple linear chromosomes. These DNA strands are often extremely long; the largest human chromosome, for example, is about 247 million base pairs in length. The DNA of a chromosome is associated with structural proteins that organize, compact, and control access to the DNA, forming a material called chromatin; in eukaryotes, chromatin is usually composed of nucleosomes, segments of DNA wound around cores of histone proteins. The full set of hereditary material in an organism (usually the combined DNA sequences of all chromosomes) is called the genome.

DNA is most often found in the nucleus of cells, but Ruth Sager helped in the discovery of nonchromosomal genes found outside of the nucleus. In plants, these are often found in the chloroplasts and in other organisms, in the mitochondria. These nonchromosomal genes can still be passed on by either partner in sexual reproduction and they control a variety of hereditary characteristics that replicate and remain active throughout generations.

While haploid organisms have only one copy of each chromosome, most animals and many plants are diploid, containing two of each chromosome and thus two copies of every gene. The two alleles for a gene are located on identical loci of the two homologous chromosomes, each allele inherited from a different parent.

Many species have so-called sex chromosomes that determine the gender of each organism. In humans and many other animals, the Y chromosome contains the gene that triggers the development of the specifically male characteristics. In evolution, this chromosome has lost most of its content and also most of its genes, while the X chromosome is similar to the other chromosomes and contains many genes. This being said, Mary Frances Lyon discovered that there is X-chromosome inactivation during reproduction to avoid passing on twice as many genes to the offspring. Lyon's discovery led to the discovery of other things including X-linked diseases. The X and Y chromosomes form a strongly heterogeneous pair.



Reproduction (W)

Walther Flemming's 1882 diagram of eukaryotic cell division. Chromosomes are copied, condensed, and organized. Then, as the cell divides, chromosome copies separate into the daughter cells.

When cells divide, their full genome is copied and each daughter cell inherits one copy. This process, called mitosis, is the simplest form of reproduction and is the basis for asexual reproduction. Asexual reproduction can also occur in multicellular organisms, producing offspring that inherit their genome from a single parent. Offspring that are genetically identical to their parents are called clones.

Eukaryotic organisms often use sexual reproduction to generate offspring that contain a mixture of genetic material inherited from two different parents. The process of sexual reproduction alternates between forms that contain single copies of the genome (haploid) and double copies (diploid) . Haploid cells fuse and combine genetic material to create a diploid cell with paired chromosomes. Diploid organisms form haploids by dividing, without replicating their DNA, to create daughter cells that randomly inherit one of each pair of chromosomes. Most animals and many plants are diploid for most of their lifespan, with the haploid form reduced to single cell gametes such as sperm or eggs.

Although they do not use the haploid/diploid method of sexual reproduction, bacteria have many methods of acquiring new genetic information. Some bacteria can undergo conjugation, transferring a small circular piece of DNA to another bacterium. Bacteria can also take up raw DNA fragments found in the environment and integrate them into their genomes, a phenomenon known as transformation. These processes result in horizontal gene transfer, transmitting fragments of genetic information between organisms that would be otherwise unrelated. Natural bacterial transformation occurs in many bacterial species, and can be regarded as a sexual process for transferring DNA from one cell to another cell (usually of the same species). Transformation requires the action of numerous bacterial gene products, and its primary adaptive function appears to be repair of DNA damages in the recipient cell.


Recombination and genetic linkage

Recombination and genetic linkage (W)

Thomas Hunt Morgan's 1916 illustration of a double crossover between chromosomes.
Main articles: Chromosomal crossover and Genetic linkage

The diploid nature of chromosomes allows for genes on different chromosomes to assort independently or be separated from their homologous pair during sexual reproduction wherein haploid gametes are formed. In this way new combinations of genes can occur in the offspring of a mating pair. Genes on the same chromosome would theoretically never recombine. However, they do, via the cellular process of chromosomal crossover. During crossover, chromosomes exchange stretches of DNA, effectively shuffling the gene alleles between the chromosomes. This process of chromosomal crossover generally occurs during meiosis, a series of cell divisions that creates haploid cells. Meiotic recombination, particularly in microbial eukaryotes, appears to serve the adaptive function of repair of DNA damages.

The first cytological demonstration of crossing over was performed by Harriet Creighton and Barbara McClintock in 1931. Their research and experiments on corn provided cytological evidence for the genetic theory that linked genes on paired chromosomes do in fact exchange places from one homolog to the other.

The probability of chromosomal crossover occurring between two given points on the chromosome is related to the distance between the points. For an arbitrarily long distance, the probability of crossover is high enough that the inheritance of the genes is effectively uncorrelated. For genes that are closer together, however, the lower probability of crossover means that the genes demonstrate genetic linkage; alleles for the two genes tend to be inherited together. The amounts of linkage between a series of genes can be combined to form a linear linkage map that roughly describes the arrangement of the genes along the chromosome.


Gene expression

Genetic code

Genetic code (W)

Main article: Genetic code

Genes generally express their functional effect through the production of proteins, which are complex molecules responsible for most functions in the cell. Proteins are made up of one or more polypeptide chains, each of which is composed of a sequence of amino acids, and the DNA sequence of a gene (through an RNA intermediate) is used to produce a specific amino acid sequence. This process begins with the production of an RNA molecule with a sequence matching the gene's DNA sequence, a process called transcription.

Thomas Hunt Morgan's 1916 illustration of a double crossover between chromosomes.

This messenger RNA molecule is then used to produce a corresponding amino acid sequence through a process called translation. Each group of three nucleotides in the sequence, called a codon, corresponds either to one of the twenty possible amino acids in a protein or an instruction to end the amino acid sequence; this correspondence is called the genetic code. The flow of information is unidirectional: information is transferred from nucleotide sequences into the amino acid sequence of proteins, but it never transfers from protein back into the sequence of DNA—a phenomenon Francis Crick called the central dogma of molecular biology.

The specific sequence of amino acids results in a unique three-dimensional structure for that protein, and the three-dimensional structures of proteins are related to their functions. Some are simple structural molecules, like the fibers formed by the protein collagen. Proteins can bind to other proteins and simple molecules, sometimes acting as enzymes by facilitating chemical reactions within the bound molecules (without changing the structure of the protein itself). Protein structure is dynamic; the protein hemoglobin bends into slightly different forms as it facilitates the capture, transport, and release of oxygen molecules within mammalian blood.

A single nucleotide difference within DNA can cause a change in the amino acid sequence of a protein. Because protein structures are the result of their amino acid sequences, some changes can dramatically change the properties of a protein by destabilizing the structure or changing the surface of the protein in a way that changes its interaction with other proteins and molecules. For example, sickle-cell anemia is a human genetic disease that results from a single base difference within the coding region for the β-globin section of hemoglobin, causing a single amino acid change that changes hemoglobin's physical properties. Sickle-cell versions of hemoglobin stick to themselves, stacking to form fibers that distort the shape of red blood cells carrying the protein. These sickle-shaped cells no longer flow smoothly through blood vessels, having a tendency to clog or degrade, causing the medical problems associated with this disease.

Some DNA sequences are transcribed into RNA but are not translated into protein products—such RNA molecules are called non-coding RNA. In some cases, these products fold into structures which are involved in critical cell functions (e.g. ribosomal RNA and transfer RNA) . RNA can also have regulatory effects through hybridization interactions with other RNA molecules (e.g. microRNA).


Nature and nurture

Nature and nurture (W)

Siamese cats have a temperature-sensitive pigment-production mutation.
Main article: Nature and nurture

Although genes contain all the information an organism uses to function, the environment plays an important role in determining the ultimate phenotypes an organism displays. The phrase "nature and nurture" refers to this complementary relationship. The phenotype of an organism depends on the interaction of genes and the environment. An interesting example is the coat coloration of the Siamese cat. In this case, the body temperature of the cat plays the role of the environment. The cat's genes code for dark hair, thus the hair-producing cells in the cat make cellular proteins resulting in dark hair. But these dark hair-producing proteins are sensitive to temperature (i.e. have a mutation causing temperature-sensitivity) and denature in higher-temperature environments, failing to produce dark-hair pigment in areas where the cat has a higher body temperature. In a low-temperature environment, however, the protein's structure is stable and produces dark-hair pigment normally. The protein remains functional in areas of skin that are colder—such as its legs, ears, tail and face—so the cat has dark hair at its extremities.

Environment plays a major role in effects of the human genetic disease phenylketonuria. The mutation that causes phenylketonuria disrupts the ability of the body to break down the amino acid phenylalanine, causing a toxic build-up of an intermediate molecule that, in turn, causes severe symptoms of progressive intellectual disability and seizures. However, if someone with the phenylketonuria mutation follows a strict diet that avoids this amino acid, they remain normal and healthy.

A common method for determining how genes and environment ("nature and nurture") contribute to a phenotype involves studying identical and fraternal twins, or other siblings of multiple births. Identical siblings are genetically the same since they come from the same zygote. Meanwhile, fraternal twins are as genetically different from one another as normal siblings. By comparing how often a certain disorder occurs in a pair of identical twins to how often it occurs in a pair of fraternal twins, scientists can determine whether that disorder is caused by genetic or postnatal environmental factors. One famous example involved the study of the Genain quadruplets, who were identical quadruplets all diagnosed with schizophrenia. However, such tests cannot separate genetic factors from environmental factors affecting fetal development.


Gene regulation

Gene regulation (W)

Transcription factors bind to DNA, influencing the transcription of associated genes..

The genome of a given organism contains thousands of genes, but not all these genes need to be active at any given moment. A gene is expressed when it is being transcribed into mRNA and there exist many cellular methods of controlling the expression of genes such that proteins are produced only when needed by the cell. Transcription factors are regulatory proteins that bind to DNA, either promoting or inhibiting the transcription of a gene. Within the genome of Escherichia coli bacteria, for example, there exists a series of genes necessary for the synthesis of the amino acid tryptophan. However, when tryptophan is already available to the cell, these genes for tryptophan synthesis are no longer needed. The presence of tryptophan directly affects the activity of the genes — tryptophan molecules bind to the tryptophan repressor (a transcription factor), changing the repressor's structure such that the repressor binds to the genes. The tryptophan repressor blocks the transcription and expression of the genes, thereby creating negative feedback regulation of the tryptophan synthesis process.

Differences in gene expression are especially clear within multicellular organisms, where cells all contain the same genome but have very different structures and behaviors due to the expression of different sets of genes. All the cells in a multicellular organism derive from a single cell, differentiating into variant cell types in response to external and intercellular signals and gradually establishing different patterns of gene expression to create different behaviors. As no single gene is responsible for the development of structures within multicellular organisms, these patterns arise from the complex interactions between many cells.

Within eukaryotes, there exist structural features of chromatin that influence the transcription of genes, often in the form of modifications to DNA and chromatin that are stably inherited by daughter cells. These features are called "epigenetic" because they exist "on top" of the DNA sequence and retain inheritance from one cell generation to the next. Because of epigenetic features, different cell types grown within the same medium can retain very different properties. Although epigenetic features are generally dynamic over the course of development, some, like the phenomenon of paramutation, have multigenerational inheritance and exist as rare exceptions to the general rule of DNA as the basis for inheritance.


Genetic change


Mutations (W)

Gene duplication allows diversification by providing redundancy: one gene can mutate and lose its original function without harming the organism.
Main article: Mutation

During the process of DNA replication, errors occasionally occur in the polymerization of the second strand. These errors, called mutations, can affect the phenotype of an organism, especially if they occur within the protein coding sequence of a gene. Error rates are usually very low—1 error in every 10–100 million bases—due to the "proofreading" ability of DNA polymerases. Processes that increase the rate of changes in DNA are called mutagenic: mutagenic chemicals promote errors in DNA replication, often by interfering with the structure of base-pairing, while UV radiation induces mutations by causing damage to the DNA structure. Chemical damage to DNA occurs naturally as well and cells use DNA repair mechanisms to repair mismatches and breaks. The repair does not, however, always restore the original sequence. A particularly important source of DNA damages appears to be reactive oxygen species produced by cellular aerobic respiration, and these can lead to mutations.

In organisms that use chromosomal crossover to exchange DNA and recombine genes, errors in alignment during meiosis can also cause mutations. Errors in crossover are especially likely when similar sequences cause partner chromosomes to adopt a mistaken alignment; this makes some regions in genomes more prone to mutating in this way. These errors create large structural changes in DNA sequence – duplications, inversions, deletions of entire regions – or the accidental exchange of whole parts of sequences between different chromosomes (chromosomal translocation) .


This is a diagram showing mutations in an RNA sequence. Figure (1) is a normal RNA sequence, consisting of 4 codons. Figure (2) shows a missense, single point, non silent mutation. Figures (3 and 4) both show frameshift mutations, which is why they are grouped together. Figure 3 shows a deletion of the second base pair in the second codon. Figure 4 shows an insertion in the third base pair of the second codon. Figure (5) shows a repeat expansion, where an entire codon is duplicated.


Natural selection and evolution

Natural selection and evolution (W)

Main article: Evolution
Further information: Natural selection

Mutations alter an organism's genotype and occasionally this causes different phenotypes to appear. Most mutations have little effect on an organism's phenotype, health, or reproductive fitness. Mutations that do have an effect are usually detrimental, but occasionally some can be beneficial. Studies in the fly Drosophila melanogaster suggest that if a mutation changes a protein produced by a gene, about 70 percent of these mutations will be harmful with the remainder being either neutral or weakly beneficial.

Population genetics studies the distribution of genetic differences within populations and how these distributions change over time. Changes in the frequency of an allele in a population are mainly influenced by natural selection, where a given allele provides a selective or reproductive advantage to the organism, as well as other factors such as mutation, genetic drift, genetic hitchhiking, artificial selection and migration.

Over many generations, the genomes of organisms can change significantly, resulting in evolution. In the process called adaptation, selection for beneficial mutations can cause a species to evolve into forms better able to survive in their environment. New species are formed through the process of speciation, often caused by geographical separations that prevent populations from exchanging genes with each other.

By comparing the homology between different species' genomes, it is possible to calculate the evolutionary distance between them and when they may have diverged. Genetic comparisons are generally considered a more accurate method of characterizing the relatedness between species than the comparison of phenotypic characteristics. The evolutionary distances between species can be used to form evolutionary trees; these trees represent the common descent and divergence of species over time, although they do not show the transfer of genetic material between unrelated species (known as horizontal gene transfer and most common in bacteria).


An evolutionary tree of eukaryotic organisms, constructed by the comparison of several orthologous gene sequences.


Model organisms

Model organisms (W)

Although geneticists originally studied inheritance in a wide range of organisms, researchers began to specialize in studying the genetics of a particular subset of organisms. The fact that significant research already existed for a given organism would encourage new researchers to choose it for further study, and so eventually a few model organisms became the basis for most genetics research. Common research topics in model organism genetics include the study of gene regulation and the involvement of genes in development and cancer.

Organisms were chosen, in part, for convenience—short generation times and easy genetic manipulation made some organisms popular genetics research tools. Widely used model organisms include the gut bacterium Escherichia coli, the plant Arabidopsis thaliana, baker's yeast (Saccharomyces cerevisiae), the nematode Caenorhabditis elegans, the common fruit fly (Drosophila melanogaster), and the common house mouse (Mus musculus).



Medicine (W)

Medical genetics seeks to understand how genetic variation relates to human health and disease. When searching for an unknown gene that may be involved in a disease, researchers commonly use genetic linkage and genetic pedigree charts to find the location on the genome associated with the disease. At the population level, researchers take advantage of Mendelian randomization to look for locations in the genome that are associated with diseases, a method especially useful for multigenic traits not clearly defined by a single gene. Once a candidate gene is found, further research is often done on the corresponding (or homologous) genes of model organisms. In addition to studying genetic diseases, the increased availability of genotyping methods has led to the field of pharmacogenetics: the study of how genotype can affect drug responses.

Individuals differ in their inherited tendency to develop cancer, and cancer is a genetic disease. The process of cancer development in the body is a combination of events. Mutations occasionally occur within cells in the body as they divide. Although these mutations will not be inherited by any offspring, they can affect the behavior of cells, sometimes causing them to grow and divide more frequently. There are biological mechanisms that attempt to stop this process; signals are given to inappropriately dividing cells that should trigger cell death, but sometimes additional mutations occur that cause cells to ignore these messages. An internal process of natural selection occurs within the body and eventually mutations accumulate within cells to promote their own growth, creating a cancerous tumor that grows and invades various tissues of the body.

Schematic relationship between biochemistry, genetics and molecular biology.

Normally, a cell divides only in response to signals called growth factors and stops growing once in contact with surrounding cells and in response to growth-inhibitory signals. It usually then divides a limited number of times and dies, staying within the epithelium where it is unable to migrate to other organs. To become a cancer cell, a cell has to accumulate mutations in a number of genes (three to seven). A cancer cell can divide without growth factor and ignores inhibitory signals. Also, it is immortal and can grow indefinitely, even after it makes contact with neighboring cells. It may escape from the epithelium and ultimately from the primary tumor. Then, the escaped cell can cross the endothelium of a blood vessel and get transported by the bloodstream to colonize a new organ, forming deadly metastasis. Although there are some genetic predispositions in a small fraction of cancers, the major fraction is due to a set of new genetic mutations that originally appear and accumulate in one or a small number of cells that will divide to form the tumor and are not transmitted to the progeny (somatic mutations) . The most frequent mutations are a loss of function of p53 protein, a tumor suppressor, or in the p53 pathway, and gain of function mutations in the Ras proteins, or in other oncogenes.


Research methods

Research methods (W)

DNA can be manipulated in the laboratory. Restriction enzymes are commonly used enzymes that cut DNA at specific sequences, producing predictable fragments of DNA. DNA fragments can be visualized through use of gel electrophoresis, which separates fragments according to their length.

Colonies of E. col produced by cellular cloning. A similar methodology is often used in molecular cloning.

The use of ligation enzymes allows DNA fragments to be connected. By binding ("ligating") fragments of DNA together from different sources, researchers can create recombinant DNA, the DNA often associated with genetically modified organisms. Recombinant DNA is commonly used in the context of plasmids: short circular DNA molecules with a few genes on them. In the process known as molecular cloning, researchers can amplify the DNA fragments by inserting plasmids into bacteria and then culturing them on plates of agar (to isolate clones of bacteria cells—"cloning" can also refer to the various means of creating cloned ("clonal") organisms).

DNA can also be amplified using a procedure called the polymerase chain reaction (PCR). By using specific short sequences of DNA, PCR can isolate and exponentially amplify a targeted region of DNA. Because it can amplify from extremely small amounts of DNA, PCR is also often used to detect the presence of specific DNA sequences.


DNA sequencing and genomics

DNA sequencing and genomics (W)

DNA sequencing, one of the most fundamental technologies developed to study genetics, allows researchers to determine the sequence of nucleotides in DNA fragments. The technique of chain-termination sequencing, developed in 1977 by a team led by Frederick Sanger, is still routinely used to sequence DNA fragments. Using this technology, researchers have been able to study the molecular sequences associated with many human diseases.

As sequencing has become less expensive, researchers have sequenced the genomes of many organisms using a process called genome assembly, which utilizes computational tools to stitch together sequences from many different fragments. These technologies were used to sequence the human genome in the Human Genome Project completed in 2003. New high-throughput sequencing technologies are dramatically lowering the cost of DNA sequencing, with many researchers hoping to bring the cost of resequencing a human genome down to a thousand dollars.

Next-generation sequencing (or high-throughput sequencing) came about due to the ever-increasing demand for low-cost sequencing. These sequencing technologies allow the production of potentially millions of sequences concurrently. The large amount of sequence data available has created the field of genomics, research that uses computational tools to search for and analyze patterns in the full genomes of organisms. Genomics can also be considered a subfield of bioinformatics, which uses computational approaches to analyze large sets of biological data. A common problem to these fields of research is how to manage and share data that deals with human subject and personally identifiable information.


Society and culture

Society and culture

Society and culture (W)

On 19 March 2015, a group of leading biologists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited. In April 2015, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.


See also




İdea Yayınevi Site Haritası | İdea Yayınevi Tüm Yayınlar
© Aziz Yardımlı 2020 | aziz@ideayayı