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November 1993

Principles of Genetics in the Molecular Era: A Primer for Dermatologists

Author Affiliations

From the Divisions of Dermatology and Medical Genetics, Departments of Pediatrics and Medicine, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle.

Arch Dermatol. 1993;129(11):1409-1416. doi:10.1001/archderm.1993.01680320043006

Advances in technology have resulted in an explosion of information about the molecular bases of human inheritance and human disease. Much of the new terminology is daunting, and it is becoming increasingly difficult to remain current. This article briefly reviews some of the changes in our understanding of the rules of inheritance and recurrence risks for genetic disorders. Further readings are suggested, and a glossary of technical terms is provided.

(Arch Dermatol. 1993;129:1409-1416)

You and I grew up in simpler times when the laws of Mendel the geneticist were immutable and pure. (As Melodie Williams and F. Clarke Fraser pointed out in their article on Clouston ectodermal dysplasia [Can Med Assoc J. 1967;96:36-38], the laws of Mendel the monk are frequently transgressed.) Peas were round or wrinkled, eyes were blue or brown, and your parents' blood groups were, hopefully, compatible with yours. Once we had mastered the concepts of autosomal

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