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Medical Genetics
Judith G. Hall, MD
JAMA. 1985;254(16):2296-2298.
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Dramatic advances in basic and molecular genetics are influencing all of medical practice. Molecular genetic techniques, used in developing diagnostic procedures for infectious disease and cancer, promote increased precision and rapidity of diagnosis. Molecular engineering has led to the availability of compounds previously in short supply, such as growth hormone and interferon. Cloning techniques have allowed quantum leaps in the understanding of developmental mechanisms, cross-species differences, and protein structure. The molecular study of oncogenes has created great optimism that we will begin to understand the mechanisms that control mitosis in normal cells, during development, and in cancer.
Over the last 12 to 15 years, very rapid progress has been made in mapping (identifying the exact location) individual human genes to specific chromosomes. Many new techniques have developed in addition to classic linkage studies, eg, somatic cell studies, in situ hybridization, chromosome aberrations, and DNA polymorphisms, which have allowed localization of
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