The information in genomes provides the instruction set for producing each living organism on the planet. While we have a growing understanding of the basic biochemical functions of many of the individual genes in genomes, understanding the complex processes by which this encoded information is read out to orchestrate production of incredibly diverse cell types and organ functions, and how different species use strikingly similar gene sets to nonetheless produce fantastically diverse organismal morphologies with distinct survival and reproductive strategies, comprise many of the deepest questions in all of science. Moreover, we recognize that inherited or acquired variation in DNA sequence and changes in epigenetic states contribute to the causation of virtually every disease that afflicts our species. Spectacular advances in genetic and genomic analysis now provide the tools to answer these fundamental questions.

Members of the Department of Genetics conduct basic research using genetics and genomics of model organisms (yeast, fruit fly, worm, zebrafish, mouse) and humans to understand fundamental mechanisms of biology and disease. Areas of active investigation include genetic and epigenetic regulation of development, molecular genetics, genomics and cell biology of stem cells, the biochemistry of micro RNA production and their regulation of gene expression, and genetic and genomic analysis of diseases in model systems and humans including cancer, cardiovascular and kidney disease, neurodegeneration and regeneration, and neuropsychiatric disease. Members of the Department have also been at the forefront of technology development in the use of new methods for genetic analysis, including new methods for engineering mutations as well as new methods for production and analysis of large genomic data sets.

The Department sponsors a graduate program leading to the PhD in the areas of molecular genetics and genomics, development, and stem cell biology. Admission to the Graduate Program is through the Combined Programs in Biological and Biomedical Sciences (BBS).

In addition to these basic science efforts, the Department is also responsible for providing clinical care in Medical Genetics in the Yale New Haven Health System. Clinical genetics services include inpatient consultation and care, general, subspecialty, and prenatal genetics clinics, and clinical laboratories for cytogenetics, DNA diagnostics, and biochemical diagnostics. The Department sponsors a Medical Genetics Residency program leading to certification by the American Board of Medical Genetics. Admission to the Genetics Residency is directly through the Department.

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Genetics - Yale School of Medicine

Health news and commentary from around the Web gathered by the MedPage Today staff

cme/ce

Study helps explain genetic heterogeneity in macular telangiectasia type 2, connection to neuropathies

Increased risk persists after accounting for treatment duration, physiological factors

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Genetics News | MedPage Today

By-Laws of the Graduate Interdisciplinary Program in Genetics

Preamble

The Genetics Graduate Interdisciplinary Program (GIDP) is comprised of an integrated set of graduate-level educational activities, both classroom- and research-based, in the broad discipline of genetics. The Program awards a Ph.D. degree in Genetics and in special circumstances an M.S. degree. Faculty members in the Program have primary appointments across many Colleges at the University of Arizona. The Executive Committee will be appointed by and responsible to the Faculty Director of Graduate Interdisciplinary Programs with the consent of the membership. The Executive Committee serves as the executive, administrative, and policy-making board for the Program. The organization and structure of the Genetics GIDP conforms to the Graduate College policies and to Guidelines of the GIDPs established by the Faculty Director of Graduate Interdisciplinary Programs.

In addition to its other functions, the Executive Committee, with the input of all the faculty of the Program, provides the direction and leadership necessary to maintain and foster excellence in the Genetics GIDPs educational activities. In accordance with this mandate, the Executive Committee will regularly review and evaluate faculty membership, the Genetics GIDPs educational activities, and any other activities that come under the purvey of this GIDP. These By-Laws constitute the rules that govern the various functions of the Genetics GIDP.

Article I. Executive Committee of the Genetics GIDP

I.1. The Executive Committee is responsible for administering the graduate program, including (i) recruitment and admission of students into the Program, (ii) establishment of program curricula, (iii) establishment of requirements for advancing to candidacy and degree completion, (iv) periodic reviews, typically annually, of student progress, (v) promotion of an environment that facilitates scholarly activities in Genetics, (vi) organization of seminars, student colloquia, journal clubs, and other forums for communication of genetics research, (vii) strategic planning for the future development of the Program, (viii) raising and allocating funds for program activities, (ix) review of faculty membership and participation in the GIDP, and (x) reporting the Programs activities and functions to the faculty and to the Faculty Director of Graduate Interdisciplinary Programs.

I.2. The Executive Committee will consist of no less than eight faculty members representing a variety of disciplines across the Genetics GIDP, including departments from multiple colleges currently involved in the Program, and one Genetics GIDP student representative, preferably at the level of Candidacy. Faculty members of the Executive Committee will serve a three-year term. Terms will be staggered so that two members of the Executive Committee rotate off the committee every one or two years. The Faculty Director of Graduate Interdisciplinary Programs will appoint new faculty members onto the Executive Committee with the consent of the membership. Faculty members of the Executive Committee may serve a maximum of three consecutive terms. The outgoing Chairperson will serve a term on the Executive Committee, after the end of his/her term as Chair, as ex-officio (non-voting) member, in an advisory capacity to aid a smooth transition and help the new Chairperson get up to speed with performing Chair duties. Student representatives serve a one-year term and will be elected by the students in the graduate program.

I.3. The Executive Committee will sanction the establishment of Standing and Ad-hoc Subcommittees as needed for the administration of the Program as defined in Article I, subsection 1.

Article II. Chairperson of the Genetics GIDP

II.1. The Chairperson of the Executive Committee will also be Chair of the Genetics GIDP. The Chair of the Genetics GIDP, with the advice of the Executive Committee and with the input of the faculty, is granted those powers and responsibilities necessary for a well-functioning program.

II.2. Election of the Chairperson. The Dean of the Graduate College, through the Faculty Director of the Graduate Interdisciplinary Programs, will appoint a member of the Executive Committee, nominated with the input from the Genetics faculty, to serve as Chairperson of the Genetics GIDP. Appointment of the Chairperson requires a two-thirds positive vote by Genetics Faculty. A quorum shall constitute one-third of the Genetics faculty members. The Chairperson will serve a five-year term with the possibility of one re-election.

II.3. The duties of the Chairperson of the Genetics GIDP are as follows.

3a. With the advice of the Executive Committee, the Chairperson shall appoint Standing Subcommittees to oversee key functions of the GIDP, including student recruitment, student progress, educational curriculum, scholarly engagement (journal clubs, colloquia, etc.), and submission of appropriate competitive and non-competitive grants.

3b. Call and preside over meetings of the GIDP.

i. meetings of the Executive Committee to be held at least once a semester;

ii. meetings of the entire faculty of the Genetics GIDP to be held at least once per year;

iii. meetings of the duly sanctioned Standing Subcommittees as needed.

3c. Administer the Genetics GIDP budget.

3d. Establish qualifying and thesis committees.

3e. Administer curricular activities and execute the educational directives of the Executive Committee.

3f. Administer student academic affairs.

3g. Supervise the Program Coordinator.

3h. Advise the Dean of the Graduate College by way of the Faculty Director of Graduate Interdisciplinary Programs on issues pertinent to the Genetics GIDP.

3i. Report at minimum annually to the faculty members on the state of the Genetics GIDP.

Article III. Membership

III.1. The Genetics GIDP faculty members consist of tenured, tenure-eligible, Clinical-Series and Research-Series faculty at the University of Arizona who participate in research and education in genetics.

III.2. Membership criteria.

2a. Faculty members will be nominated by submitting of a request for membership, consisting of a cover letter and a current curriculum vitae, to the Executive Committee. Criteria for membership shall include interest in participation in graduate teaching and research and demonstrated current scholastic activity in the broad field of genetics. Therefore, the cover letter should include a statement of interest addressing the aforementioned points.

2b. Upon evaluation of the request, the Executive Committee will vote on the nominee. If a nominee receives a two-thirds majority vote, the nomination will be forwarded to the Faculty Director of Graduate Interdisciplinary Programs who shall confer membership. New members are required to present a research seminar in the Genetics Seminar Series within one year of joining the Genetics GIDP Program. Continuation of membership is contingent upon meeting the same criteria at periodic review by the Executive Committee.

2c. A member of the Genetics GIDP will be asked to leave the Program if s/he fails to participate in the activities of the Program. Participation in the Program includes service on a Subcommittee, acting as a dissertation/thesis director for a Genetics GIDP graduate student, teaching a graduate course or seminar in Genetics, or continued scholarly productivity in the general area of genetics.

2d. Members dropped from membership may reapply for membership as outlined in Article III, section 2a.

III.3. Membership responsibilities.

3a. Tenure track members of the Genetics GIDP may serve as dissertation/thesis advisors for students in the Genetics Graduate Interdisciplinary Program. Research series faculty who wish to supervise a graduate student must request special permission from the Graduate College, Deans office (Associate Dean Janet Sturman) through the Genetics GIDP, for permission to mentor a student in the Program.

3b. Members of the Genetics GIDP may be asked to serve on the various Subcommittees of the Program, to participate in teaching, to act as a thesis advisor, to serve on a thesis committee, or to participate in other scholarly activities of the program.

3c. Members serving as major advisors for graduate students in the Program, will be expected to share in the support of graduate students in the Program at a level determined by the Executive Committee.

III.4. Voting. Each faculty member of the Genetics GIDP shall have one vote on matters brought to the Program by the Executive Committee. A quorum shall constitute one-third of the faculty membership.

III.5. Annual Genetics GIDP surveys will be sent out to monitor the participation and enthusiasm of the faculty. Questions will include what percentage of faculty time is spent involved at any level with the Genetics GIDP and whether faculty still wish to be involved with the Genetics GIDP program.

Article IV Amendments

These By-Laws will be reviewed and amended as needed by majority vote of the Executive Committee and approved by a two-thirds vote of the Genetics faculty. A quorum shall constitute one-third of the Genetics faculty.

Edited Nov 29, 2017 by the EC

Reviewed Nov 30, 2017 by the Genetics faculty

Approved Dec 5, 2017 by Genetics faculty vote

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Genetics | Graduate Interdisciplinary Programs

We construct genomic predictors for heritable but extremely complex human quantitative traits (height, heel bone density, and educational attainment) using modern methods in high dimensional statistics (i.e., machine learning). The constructed predictors explain, respectively, 40, 20, and 9% of total variance for the three traits, in data not used for training. For example, predicted heights correlate 0.65 with actual height; actual heights of most individuals in validation samples are within a few centimeters of the prediction. The proportion of variance explained for height is comparable to the estimated common SNP heritability from genome-wide complex trait analysis (GCTA), and seems to be close to its asymptotic value (i.e., as sample size goes to infinity), suggesting that we have captured most of the heritability for SNPs. Thus, our results close the gap between prediction R-squared and common SNP heritability. The 20k activated SNPs in our height predictor reveal the genetic architecture of human height, at least for common variants. Our primary dataset is the UK Biobank cohort, comprised of almost 500k individual genotypes with multiple phenotypes. We also use other datasets and SNPs found in earlier genome-wide association studies (GWAS) for out-of-sample validation of our results.

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Accurate Genomic Prediction of Human Height | Genetics

Definition

noun

(1) The study of the patterns of inheritance of specific traits, relating to genes and genetic information

(2) Heredity

Supplement

Genetics include biological studies in heredity, particularly the mechanisms of hereditary transmission and the variation of inherited characteristics among similar or related organisms. The different branches of genetics include:

The person specializing in genetics is referred to as geneticist. The father of genetics is Gregor Mendel who is an Augustinian friar in 19th century. His work that paved the way to genetics is his study of trait inheritance. He was able to decipher the patterns in which the traits were passed down from patents to offspring on pea plants.

Word origin: Ancient Greek gnesis (origin)

See also:

Related term(s):

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Genetics - Biology-Online Dictionary | Biology-Online Dictionary

APA StyleMLA StyleAMA Style

NIDA. (2016, February 2). Genetics. Retrieved from https://www.drugabuse.gov/related-topics/genetics

NIDA. "Genetics." National Institute on Drug Abuse, 2 Feb. 2016, https://www.drugabuse.gov/related-topics/genetics.

NIDA. Genetics. National Institute on Drug Abuse website. https://www.drugabuse.gov/related-topics/genetics. February 2, 2016.

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Genetics | National Institute on Drug Abuse (NIDA)

About 5% to 10% of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.

Genes are short segments of DNA (deoxyribonucleic acid) found in chromosomes. DNA contains the instructions for building proteins. And proteins control the structure and function of all the cells that make up your body.

Think of your genes as an instruction manual for cell growth and function. Changes or mistakes in the DNA are like typographical errors. They may provide the wrong set of instructions, leading to faulty cell growth or function. In any one person, if there is an error in a gene, that same mistake will appear in all the cells that contain the same gene. This is like having an instruction manual in which all the copies have the same typographical error.

There are two types of DNA changes: those that are inherited and those that happen over time. Inherited DNA changes are passed down from parent to child. Inherited DNA changes are called germ-line alterations or mutations.

DNA changes that happen over the course of a lifetime, as a result of the natural aging process or exposure to chemicals in the environment, are called somatic alterations.

Some DNA changes are harmless, but others can cause disease or other health issues. DNA changes that negatively affect health are called mutations.

Most inherited cases of breast cancer are associated with mutations in two genes: BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two).

Everyone has BRCA1 and BRCA2 genes. The function of the BRCA genes is to repair cell damage and keep breast, ovarian, and other cells growing normally. But when these genes contain mutations that are passed from generation to generation, the genes don't function normally and breast, ovarian, and other cancer risk increases. BRCA1 and BRCA2 mutations may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Having a BRCA1 or BRCA2 mutation doesn't mean you will be diagnosed with breast cancer. Researchers are learning that other mutations in pieces of chromosomes -- called SNPs (single nucleotide polymorphisms) -- may be linked to higher breast cancer risk in women with a BRCA1 mutation as well as women who didn't inherit a breast cancer gene mutation.

Women who are diagnosed with breast cancer and have a BRCA1 or BRCA2 mutation often have a family history of breast cancer, ovarian cancer, and other cancers. Still, most people who develop breast cancer did not inherit a genetic mutation linked to breast cancer and have no family history of the disease.

You are substantially more likely to have a genetic mutation linked to breast cancer if:

If one family member has a genetic mutation linked to breast cancer, it does not mean that all family members will have it.

The average woman in the United States has about a 1 in 8, or about 12%, risk of developing breast cancer in her lifetime. Women who have a BRCA1 mutation or BRCA2 mutation (or both) can have up to a 72% risk of being diagnosed with breast cancer during their lifetimes. Breast cancers associated with a BRCA1 or BRCA2 mutation tend to develop in younger women and occur more often in both breasts than cancers in women without these genetic mutations.

Women with a BRCA1 or BRCA2 mutation also have an increased risk of developing ovarian, colon, and pancreatic cancers, as well as melanoma.

Men who have a BRCA2 mutation have a higher risk of breast cancer than men who don't -- about 8% by the time they're 80 years old. This is about 80 times greater than average.

Men with a BRCA1 mutation have a slightly higher risk of prostate cancer. Men with a BRCA2 mutation are 7 times more likely than men without the mutation to develop prostate cancer. Other cancer risks, such as cancer of the skin or digestive tract, also may be slightly higher in men with a BRCA1 or BRCA2 mutation.

Mutations in other genes are also associated with breast cancer. These genetic mutations are much less common and don't seem to increase risk as much as BRCA1 and BRCA2 mutations, which are considered rare. Still, because these genetic mutations are even rarer, they haven't been studied as much as the BRCA mutations.

Inheriting two abnormal copies of the BRCA2, BRIP1, MRE11A, NBN, PALB2, RAD50, or RAD51C genes causes the disease Fanconi anema, which suppresses bone marrow function and leads to extremely low levels of red blood cells, white blood cells, and platelets. People with Fanconi anemia also have a higher risk of several other types of cancer, including kidney cancer and brain cancer.

There are genetic tests available to determine if someone has a BRCA1 or BRCA2 mutation. A genetic counselor also may order testing for ATM, CDH1, CHEK2, MRE11A, MSH6, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, SEC23B, or TP53 mutations, individually or as part of a larger gene panel that includes BRCA1 and BRCA2.

For more information, visit the Breastcancer.org Genetic Testing pages.

If you know you have an abnormal gene linked to breast cancer, there are lifestyle choices you can make to keep your risk as low it can be:

These are just a few steps you can take. Review the links on the left side of this page for more options.

Along with these lifestyle choices, there are other risk-reduction options for women at high risk because of abnormal genetics.

Hormonal therapy medicines: Two SERMs (selective estrogen receptor modulators) and two aromatase inhibitors have been shown to reduce the risk of developing hormone-receptor-positive breast cancer in women at high risk.

Hormonal therapy medicines do not reduce the risk of hormone-receptor-negative breast cancer.

More frequent screening: If you're at high risk because of an abnormal breast cancer gene, you and your doctor will develop a screening plan tailored to your unique situation. You may start being screened when you're younger than 40. In addition to the recommended screening guidelines for women at average risk, a screening plan for a woman at high risk may include:

Women with an abnormal breast cancer gene need to be screened twice a year because they have a much higher risk of cancer developing in the time between yearly screenings. For example, the Memorial Sloan-Kettering Cancer Center in New York, NY recommends that women with an abnormal BRCA1 or BRCA2 gene have both a digital mammogram and an MRI scan each year, about 6 months apart (for example, a mammogram in December and an MRI in June).

A breast ultrasound is another powerful tool that can help detect breast cancer in women with an abnormal breast cancer gene. This test does not take the place of digital mammography and MRI scanning.

Talk to your doctor, radiologist, and genetic counselor about developing a specialized program for early detection that addresses your breast cancer risk, meets your individual needs, and gives you peace of mind.

Protective surgery: Removing the healthy breasts and ovaries -- called prophylactic surgery ("prophylactic" means "protective") -- are very aggressive, irreversible risk-reduction options that some women with an abnormal BRCA1 or BRCA2 gene choose.

Prophylactic breast surgery may be able to reduce a woman's risk of developing breast cancer by as much as 97%. The surgery removes nearly all of the breast tissue, so there are very few breast cells left behind that could develop into a cancer.

Women with an abnormal BRCA1 or BRCA2 gene may reduce their risk of breast cancer by about 50% by having prophylactic ovary and fallopian tube removal (salpingo-oophorectomy) before menopause. Removing the ovaries lowers the risk of breast cancer because the ovaries are the main source of estrogen in a premenopausal womans body. Removing the ovaries doesnt reduce the risk of breast cancer in postmenopausal women because fat and muscle tissue are the main producers of estrogen in these women. Prophylactic removal of both ovaries and fallopian tubes reduces the risk of ovarian cancer in women at any age, before or after menopause.

Research also has shown that women with an abnormal BRCA1 or BRCA2 gene who have prophylactic ovary removal have better survival if they eventually are diagnosed with breast or ovarian cancer.

The benefit of prophylactic surgeries is usually counted one year at a time. Thats why the younger you are at the time of surgery, the larger the potential benefit, and the older you are, the lower the benefit. Also, as you get older youre more likely to develop other medical conditions that affect how long you live, such as diabetes and heart disease.

Of course, each woman's situation is unique. Talk to your doctor about your personal level of risk and how best to manage it.

It's important to remember that no procedure -- not even removing both healthy breasts and ovaries at a young age -- totally eliminates the risk of cancer. There is still a small risk that cancer can develop in the areas where the breasts used to be. Close follow-up is necessary, even after prophylactic surgery.

Prophylactic surgery decisions require a great deal of thought, patience, and discussion with your doctors, genetic counselor, and family over time -- together with a tremendous amount of courage. Take the time you need to consider these options and make decisions that feel comfortable to you.

For more information, visit the Breastcancer.org Prophylactic Mastectomy and Prophylactic Ovary Removal pages.

Think Pink, Live Green: A Step-by-Step Guide to Reducing Your Risk of Breast Cancer teaches you the biology of breast development and how modern life affects breast cancer risk. Order a free booklet by mail or download the PDF of the booklet to learn 31 risk-reducing steps you can take today.

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Genetics: Breast Cancer Risk Factors

Methods in geneticsExperimental breeding

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.

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.

Biochemistry is carried out at the cellular or subcellular level, generally on cell extracts. Biochemical methods are applied to the main chemical compounds of geneticsnotably 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.

Chemical tests are used to distinguish certain inherited conditions of humans; e.g., urinalysis and blood analysis reveal the presence of certain inherited abnormalitiesphenylketonuria (PKU), cystinuria, alkaptonuria, gout, and galactosemia. Genomics has provided a battery of diagnostic tests that can be carried out on an individuals DNA. Some of these tests can be applied to fetuses in utero.

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.

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.

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.

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 logicfor 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.

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 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.

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.

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.

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Genetics - Methods in genetics | Britannica.com

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The whole human family is one species with the same genes. Mutation creates slightlydifferent versions of the same genes, called alleles. These small differences in DNA sequencemake every individual unique. They account for the variation we see in human hair color, skincolor, height, shape, behavior, and susceptibility to disease. Individuals in other speciesvary too, in both physical appearance and behavior.

Genetic variation is useful because it helps populations change over time. Variations thathelp an organism survive and reproduce are passed on to the next generation. Variations thathinder survival and reproduction are eliminated from the population. This process of naturalselection can lead to significant changes in the appearance, behavior, or physiology ofindividuals in a population, in just a few generations.

Once new alleles arise, meiosis and sexual reproduction combine different alleles in newways to increase genetic variation.

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What is Mutation? - Genetics