Thompson, Margaret W. Departments of Medical Genetics and Pediatrics, University of Toronto and the Hospital for Sick Children, Toronto, Ontario, Canada.
Denniston, Carter L. Department of Medical Genetics, University of Wisconsin, Madison, Wisconsin.
Vogel, Friedrich Institute for Anthropology and Human Genetics, Im Neuenheimer Feld, Germany.
Nyhan, William L. Department of Pediatrics, University of California, San Diego, California.
Last reviewed:March 2019
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- Chromosome and gene structure
- Single-gene inheritance
- Quantitative inheritance
- Hereditary diseases
- Chromosomal diseases
- Diseases with mendelian inheritance
- Multifactorial diseases
- Biochemical genetics
- Inheritance mechanism
- Inborn errors of amino acid metabolism
- Mitochondrial disease
- Related Primary Literature
- Additional Reading
A scientific discipline concerned with genetically determined resemblances and differences among human beings. Human genetics analyzes all aspects of inheritance occurring in humans. Although the mechanism by which heredity operates remained mostly unknown until the twentieth century, the idea that certain physical and mental characteristics, normal or abnormal, can “run in families” goes back to ancient times. Formerly, genetics was thought to be concerned only with the familial transmission of rare and insignificant characteristics, but its fundamental biological role is now apparent. Genes, the units of heredity, have two unique properties: they are self-replicating, and they carry (in their biochemical structure) the codes for protein synthesis (Fig. 1). Consequently, genes play the double role of transmitting genetic information from generation to generation and of governing all the activities of living cells. See also: Biochemistry; Gene; Genetics; Human genome; Protein
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