ABC of Clinical Genetics by Helen M. Kingston

By Helen M. Kingston

This ABC is a concise, hugely illustrated advent to genetic mechanisms interested in inherited issues. the hot version has been greatly up to date with new and revised chapters to surround speedy advances within the box. uncomplicated genetic strategies are defined in addition to the appliance of recent applied sciences in medical perform. info on correct websites also are incorporated besides instructed texts for extra studying.

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Several genes are known to contain regions of trinucleotide repeats. The number of repeats varies from person to person in the general population, but within the normal range these repeats are stably transmitted. When the number of repeats is increased beyond the normal range, this region becomes unstable with a tendency to increase in size when transmitted to offspring. In some conditions there is a clear distinction between normal and pathological alleles. In others, the expanded alleles may act either as premutations or as full pathological mutations.

Tuberous sclerosis also demonstrates pleiotropy, resulting in a variety of apparently unrelated phenotypic features, such as skin hypopigmentation, multiple hamartomas and learning disability. Each of these pleiotropic effects can demonstrate variable expressivity and penetrance in a given family. 2 Segregation of autosomal dominant alleles when one parent is affected Penetrance A few dominant disorders show lack of penetrance, that is, a person who inherits the gene does not develop the disorder.

Chimaerism explains the rare occurrence of both XX and XY cell lines in a single individual. Functional mosaicism occurs in all females as only one X chromosome remains active in each cell. The process of X inactivation occurs in early embryogenesis and is random. Thus, alleles that differ between the two chromosomes will be expressed in mosaic fashion. Carriers of X linked recessive mutations normally remain asymptomatic as only a proportion of cells have the mutant allele on the active chromosome.

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