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Medical Genetics

C. Thomas Caskey, MD; Victor A. McKusick, MD
JAMA. 1990;263(19):2654-2656. doi:10.1001/jama.1990.03440190110058.
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Medical genetics can be said to be the first subspecialty of molecular medicine. Rapid incorporation of recombinant DNA technology into the clinical diagnostics of genetic disease has been the modus operandi of the field. At the 1989 American Society of Human Genetics meeting, more than 60% of manuscripts were molecular descriptions of disease genes. Application of DNA-based diagnostics has been accelerated by development of the polymerase chain reaction. Yeast artificial chromosome vectors and other methods for cloning large DNA segments and data flow from the Human Genome Initiative will accelerate disease gene identifications far beyond the expectations of 1 or 2 years ago. In only about 100 of the more than 3000 known heritable diseases has the mutant gene been isolated.1 We anticipate identification of all 50 000 to 100 000 human genes within 10 to 15 years. To accommodate the application of DNA technology for molecular medicine, we


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