Academic journal article Mankind Quarterly

Management of Genetic Syndromes

Academic journal article Mankind Quarterly

Management of Genetic Syndromes

Article excerpt

Management of Genetic Syndromes Eds. Suzanne B. Cassidy and Judith E. Allanson Wiley-Liss (2nd edition) 2005

Continuing advances in the study of genetics have made possible the identification of mutations responsible for many genetic diseases, and advances in medicine and surgical procedures have made it possible to ameliorate their effects in a limited number of cases. Designed to assist primary care physicians, contributors to this recently updated and massive reference work provide information on the origin and treatment of fifty-five genetic disorders, by both surgical and medical means.

While severely deleterious mutations in dominant genes have historically tended to be self-eliminating, mutations that are inherited recessively are likely to be more persistent, particularly in modern out-breeding societies, because they do not affect the phenotype of all offspring. Throughout the greater part of Hominid evolutionary history, our forebears lived in small groups which were thinly spread over the habitable parts of the earth, and consequently reproduced within much tighter gene pools than we are accustomed to in contemporary Western societies. In those more feral conditions, closer inbreeding brought recessive mutations together more frequently, increasing the likelihood that deleterious mutations would show themselves in the phenotype.

When such mutations affected the survival, or even simply the reproductive, chances of the affected individual, they tended to be eliminated from the intergenerational gene pool. But that no longer happens when gene pools become fuzzy due to increased outbreeding, and the result is a general spread of harmful mutations that cease to be removed from interbreeding gene pools as rapidly as they would have been throughout all previous evolutionary time. …

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