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Genetics

Genetics is the science of genes, heredity, and the variation of organisms. Humans began applying knowledge of genetics in prehistory with the domestication and breeding of plants and animals. In modern research, genetics provides important tools in the investigation of the function of a particular gene, e.g. analysis of genetic interactions. Within organisms, genetic information generally is carried in chromosomes, where it is represented in the chemical structure of particular DNA molecules.

Table of contents
1 Closely-related fields
2 Brief history
3 Timeline of notable discoveries in genetics
4 See also
5 External links

Closely-related fields

The science which grew out of the union of biochemistry and genetics is widely known as molecular biology. The term "genetics" is often widely conflated with the notion of genetic engineering, where the DNA of an organism is modified for some kind of practical end, but most research in genetics is aimed at understanding and explaining the effect of genes on phenotypes and in the role of genes in populations (see population genetics and ecological genetics), rather than genetic engineering. A more recent development is the rise of genomics, which attempts the study of large-scale genetic patterns across the genome for (and in principle, all the DNA in) a given species.

The study of inherited features not strictly associated with changes in the DNA sequence is called epigenetics.

Some take the view that life can be defined, in molecular terms, as the set of strategies which RNA polynucleotides have used and continue to use to perpetuate themselves. This definition grows out of work on the origin of life, specifically the RNA world hypothesis.

Brief history

It wasn't until 1865 that Gregor Mendel first traced inheritance patterns of certain traits in pea plants and showed that they obeyed simple statistical rules. Although not all features show this Mendelian inheritance, his work acted as a proof that application of statistics to inheritance could be highly useful. Since that time many more complex forms of inheritance have been demonstrated.

From his statistical analysis Mendel defined a concept that he described as an allele, which was the fundamental unit of heredity. The term allele as Mendel used it is nearly synonymous with the term gene, whilst the term allele now means a specific variant of a particular gene.

The significance of Mendel's work was not understood until early in the twentieth century, after his death, when his research was re-discovered by other scientists working on similar problems.

Mendel was unaware of the physical nature of the gene. We now know that genetic information is normally carried on DNA. (Certain viruses store their genetic information in RNA). Manipulation of DNA can in turn alter the inheritance and features of various organisms.

Genes encode the information necessary for synthesizing proteins, which, in turn play a large role in influencing, although, in many instances, do not completely determine, the final phenotype of the organism.

Timeline of notable discoveries in genetics

1859 Charles Darwin publishes The Origin of Species
1865 Gregor Mendel's paper, Experiments on Plant Hybridization
1903 Chromosomes are discovered to be hereditary units
1905 British biologist William Bateson coins the term "genetics" in a letter to Adam Sedgwick
1910 Chromosomes include genes
1918 Ronald Fisher publishes On the correlation between relatives on the supposition of Mendelian inheritance - the modern synthesis starts.
1913 Gene maps show chromosomes containing linear arranged genes
1927 Physical changes in genes are called mutations
1928 Frederick Griffith discovers a hereditary molecule that is transmissible between bacteria (see Griffiths experiment)
1931 Crossing over is the cause of recombination
1944 Oswald Theodore Avery, Colin McLeod and Maclyn McCarty isolate DNA as the genetic material (at that time called transforming principle)
1945 Genes code for proteins; see the original central dogma of genetics
1950 Erwin Chargaff shows that the four nucleotides are not present in nucleic acids in stable proportions, but that some general rules appear to hold (e.g., that the amount of adenine, A, tends to be equal to that of thymine, T).
1952 The Hershey-Chase experiment proves the genetic information of phages (and all other organisms) to be DNA
1953 DNA structure is resolved to be a double helix by James D. Watson and Francis Crick
1958 The Meselson-Stahl experiment demonstrates that DNA is semiconservatively replicated
1961 The genetic code is arranged in triplets
1977 DNA is sequenced
1997 First genome sequenced
2001 First draft sequences of the human genome are released simultaneously by the Human Genome Project and Celera Genomics.
2003 (14 April) Successful completion of Human Genome Project with 99% of the genome sequenced to a 99.99% accuracy [1]

See also

Related topics

People working in genetic research

Companies related to genetic research

Research institutes involved in genetics research

Americas

Europe

  • Austria
  • Germany
    • Zentrum für genetische Forschung, (part of Max-Planck-Institute für Psychiatrie und Biochemie) München
    • Institut für Humangenetik, Hamburg [1]
    • Institut für Humangenetik, (Klinikum der Ruprecht-Karls-Universität Heidelberg), Heidelberg [1]
    • Institut für Humangenetik, (Friedrich-Alexander-Universität), Erlangen-Nürnberg [1]
    • Institut für Humangenetik (Friedrich-Wilhelms-Universität), Bonn [1]
    • Institut für Humangenetik, (Universität Lübeck), Lübeck [1]
    • Max Planck Institute for Molecular Genetics, Berlin [1]
    • European Molecular Biology Lab (EMBL), Heidelberg

  • Italy
    • International Plant Genetic Resources Institute, Maccarese (Fiumicino) [1]

  • UK

Asia/Pacific

Africa

Genetic research watchdog organizations

External links

Related publications

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GeneClinics: Medical Genetics Knowledge Base
NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
http://www.geneclinics.org

Genetic Assays Inc.
Offers physicians, hospitals, and laboratories, molecular techniques for the gene level diagnosis and management of diseases. Also provide DNA testing for the determination of parentage/paternity.
http://www.geneticassays.com/

GeneTests
A genetic testing resource including an introduction to genetic counseling and testing and a genetics laboratory directory. From the University of Washington.
http://www.genetests.org/

Molecular Genetics Testing Laboratory: Ashkenazi Jewish Genetic Disease Screen
Information about a test for seven common inherited diseases in the Ashkenazi Jewish population: Tay-Sachs disease, Canavan disease, cystic fibrosis, Gaucher disease, Bloom syndrome, familial dysautonomia and Fanconi anemia.
http://cfar-www.med.nyu.edu/genetics/lab/ashkenazi_screen.html

Designer Genes, Inc.
Develop and sell novel genetics-based detection technologies for diagnosing and monitoring cancer and other diseases. Products include both diagnostic reagent kits and medical diagnostic devices.
http://designergenesinc.com/

DNAprint Genomics inc.
Develop analytics and information resource products, including platforms for genotype pattern recognition for complex trait determination. Includes an overview of services, investor relations, and career opportunities.
http://www.dnaprint.com/

Genassist, Inc.
Resources and genetic consultation for people with pregnancy questions related to inherited diseases, assisted conception, and pregnancy ultrasound.
http://www.genassist.com/

Dynacare Northwest, Inc. Cytogenetics Laboratory
Offers a range of tests including Fluorescent In Situ Hybridization (FISH) for microdeletion syndromes. Karyotypes and ideograms of normal and abnormal chromosomes are included as examples.
http://members.aol.com/cytogenlab/index.htm

The Genetics Wormhole
Portal site with links to educational resources on genetic disorder, journals, support groups, bioinformatics, and resources for researchers and clinical geneticists.
http://www.uplink.com.ph/customers/drmike/index.htm

Gene Dx
Genetic testing and diagnosis company serving individuals and families suffering from severe hereditary disorders.
http://www.genedx.com

The Gene Trust
Goal is to establish a database of information about people, including physical characteristics, health histories, and responses to treatments and thus speed up the rate of medical advances based on this genetic knowledge .
http://www.dna.com/

Interleukin Genetics Incorporated
Performs genetic susceptibility testing services for common diseases which are treatable and preventable. Includes corporate and financial data, and job opportunities .
http://www.ilgenetics.com/

Gene Analysis Service GmbH
Molecular biological and medical diagnostic service laboratory. Mutation screening by DNA sequencing for the detection of rare genetic diseases.
http://www.gene-analysis-service.de/

The Robert Guthrie Biochemical Genetics Laboratory
Diagnostic testing for inborn errors of metabolism with an emphasis on metabolic myopathies and mitochondrial diseases. Includes print-off forms and research updates.
http://www.rgbgl.org/

H.A. Chapman Institute of Medical Genetics
Not-for-profit facility that integrates diagnostic testing with clinical support services for physicians, patients, and their families. Testing capabilities include cytogenetics, molecular genetics, and parentage testing.
http://genetics.hillcrest.com/

New York University Department of Pediatrics Human Genetics Program
Offers evaluation, testing and counseling for genetic diseases with information on faculty, clinical services, molecular genetics laboratory, and research interests
http://www.med.nyu.edu/genetics/

American Board of Genetic Counseling
Prepares and administers examinations and accredits training programs. Offers a range of information on examinations, guidelines, and training programs.
http://www.abgc.net/

National Society of Genetic Counselers - NSGC
Promote the profession as a recognized part of health care delivery, education, research and public policy. Includes a searchable database of counselors.
http://www.nsgc.org/

Canadian Association of Genetic Counsellors - CAGC
Establish minimum standards of practice and encourage professional growth. Includes certification, training, jobs, and conferences. Many documents use the PDF file format.
http://www.cagc-accg.ca/

Kimball Genetics
Genetic testing laboratory specializing in DNA analysis for common genetic disorders. Includes listing of tests available.
http://www.kimballgenetics.com/

Sciona Ltd.
Provide testing services in the area of diet and lifestyle using each individual's unique genetic profile to make recommendations.
http://www.sciona.com

Human Gene Testing
Article by Drs. Stuart Orkin and Gary Felsenfeld describing how basic research led to genetic testing, including how the discoveries of DNA, restriction enzymes, cloning, & PCR (polymerase chain reaction) make tests for diseases like sickle-cell anemia and breast cancer possible.
http://www.beyonddiscovery.org/content/view.article.asp?a=239

Predictive Genetics and DNA Diagnostics
Offers home collection kits for a range of tests including angiotensinogen, Factor V Leiden, hereditary hemochromatosis, periodontal disease and prothrombin.
http://www.pgd2.com/

Genetics Northwest
Offers prenatal and cancer genetic counseling, and genetic testing including paternity testing and Native American ancestry testing. A genetics library is also available for interlibrary loan and document delivery.
http://www.geneticsnw.org/

National Newborn Screening and Genetics Resource Center of the US
Provides a large collection of resources on birth defects and on genetic/metabolic screening of infants as a component of public health.
http://genes-r-us.uthscsa.edu/

Gendia - Genetic Diagnostics
International network of laboratories offering molecular tests for a range of disorders.
http://www.gendia.net/

Gene Testing
Brief overview of gene testing: what it is, how it works, what are some of the pros and cons, what tests are available. Includes a guide to further resources.
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml

Mountain States Genetics Network
Share medical genetics knowledge and resources with other health care practitioners, patients, and caregivers. Features an overview of services, chromosome and DNA testing, education, and news.
http://www.mostgene.org/

Gendia
International network of academic and commercial laboratories from Europe and the US providing a range of services including paternity, maternity, twins, and relationship diagnostics.
http://www.paternity.be

South East of Scotland Genetic Service
Offer counselling services for patients, and provide a range of educational resources for health professionals and students. Includes information leaflets, degree modules, and research studies.
http://www.genisys.hw.ac.uk/cgi-bin/WebObjects/genisys

OHSU Genetic Service Laboratories
Provide laboratory testing and diagnostic evaluation of rare and unusual inherited metabolic diseases. Includes information on the faculty, education, research, and related resources.
http://www.ohsu.edu/genetics/



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