New PDF release: ABC of Clinical Genetics

By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated advent to genetic mechanisms fascinated with inherited issues. the recent variation has been broadly up to date with new and revised chapters to surround swift advances within the box. uncomplicated genetic techniques are defined in addition to the appliance of recent applied sciences in scientific perform. details on correct sites also are integrated in addition to suggested texts for additional interpreting.

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With successive cell divisions some cells will remain heteroplasmic but others may drift towards homoplasmy for the mutant or wild-type DNA. Large deletions, which make the remaining mitochondrial DNA appreciably shorter, may have a selective advantage in terms of replication efficiency, so that the mutant genome accumulates preferentially. The severity of disease caused by mitochondrial mutations probably depends on the relative proportions of wild-type and mutant DNA present, but is very difficult to predict in a given subject.

A number of recessive genes at different loci cause severe congenital deafness and this affects recurrence risk when two affected individuals have children (see chapter 8). 5 Characteristics of autosomal recessive inheritance • • • • Males and females equally affected Both parents are unaffected carriers Two out of three unaffected siblings are carriers Increased incidence of parental consanguinity in rare disorders Consanguinity Consanguinity increases the risk of a recessive disorder because both parents are more likely to carry the same defective gene, that has been inherited from a common ancestor.

There is a sex bias in the transmission of the most severe forms of some of these disorders, with maternal transmission of congenital myotonic dystrophy and fragile X syndrome, but paternal transmission of juvenile Huntington disease. A number of late onset neurodegenerative disorders (for example Huntington disease and spinocerebellar ataxias) are associated with expansions of a CAG repeat sequence in the coding region of the relevant gene, that is translated into polyglutamine tracts in the protein product.

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ABC of Clinical Genetics by Helen M. Kingston


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