By Helen M. Kingston
This ABC is a concise, hugely illustrated creation to genetic mechanisms fascinated by inherited issues. the recent version has been commonly up to date with new and revised chapters to surround quick advances within the box. easy genetic thoughts are defined in addition to the applying of latest applied sciences in scientific perform. info on suitable sites also are integrated besides prompt texts for additional interpreting.
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Extra resources for ABC of Clinical Genetics
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. 11 Pedigree of Leber hereditary optic neuropathy caused by a mutation within the mitochondrial DNA. Carrier women transmit the mutation to all their offspring, some of whom will develop the 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 severity of the disorder may be influenced by the particular combination of mutations present. Locus heterogeneity, where a particular phenotype can be caused by different genes, is seen in some autosomal recessive disorders. 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).
Sometimes spontaneous abortion is inevitable; at other times a child with multiple abnormalities may be born alive. Clinical syndromes have been described due to imbalance of some specific chromosomal segments. This applies particularly to terminal chromosomal deletions. For other rearrangements, the likely effect can only be assessed from reports of similar cases in the literature. Prediction is never precise, since reciprocal translocations in unrelated individuals are unlikely to be identical at the molecular level and other factors may influence expression of the chromosomal imbalance.