Download e-book for iPad: ABC of Clinical Genetics, 3rd Edition by Helen M. Kingston

By Helen M. Kingston

ISBN-10: 0585393885

ISBN-13: 9780585393889

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated creation to genetic mechanisms curious about inherited problems. the recent version has been commonly up-to-date with new and revised chapters to surround swift advances within the box. easy genetic techniques are defined in addition to the applying of recent applied sciences in scientific perform. details on proper websites also are integrated in addition to suggested texts for extra analyzing.

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Extra info for ABC of Clinical Genetics, 3rd Edition

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Heterogeneity Genetic heterogeneity is common and involves multiple alleles at a single locus as well as multiple loci for some disorders. Allelic heterogeneity implies that many different mutations can occur in a disease gene. 7 Pedigree demonstrating the effect of multiple consanguinity on the inheritance of an autosomal recessive disorder. Affected children (᭿; ᭹) have been born to several couples and the obligate gene carriers are indicated ( ; ) 27 ABC of Clinical Genetics have two different mutations in the disease-causing gene and these people are referred to as compound heterozygotes.

The affected parent must pass on a gene for the disorder since they are homozygous for this gene and the risk to the offspring is therefore half of the spouse’s carrier risk (the chance that they too would pass on a mutant gene). The risk in a consanguineous family is shown in example 10. Examples 11 and 12 1/2 1/4 Risk of affected child 1 × 1/4 × 1/2 = 1/8 Some autosomal recessive disorders, such as severe congenital deafness can be caused by a variety of genes at different loci. When both parents are affected by autosomal recesive deafness, the risks to the offspring will depend on whether the parents are homozygous for the same (allelic) or different (non-allelic) genes.

20 Nondisjunction error at paternal meiosis II resulting in XYY syndrome in offspring 6 Mendelian inheritance Disorders caused by a defect in a single gene follow the patterns of inheritance described by Mendel and the term mendelian inheritance has been used to denote unifactorial inheritance since 1901. Individual disorders of this type are often rare, but are important because they are numerous. By 2001, over 9000 established gene or phenotype loci were listed in OMIM. Online Mendelian Inheritance in Man (TM).

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ABC of Clinical Genetics, 3rd Edition by Helen M. Kingston


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