By Helen M. Kingston
This ABC is a concise, hugely illustrated creation to genetic mechanisms fascinated with inherited problems. the hot variation has been largely up-to-date with new and revised chapters to surround fast advances within the box. uncomplicated genetic options are defined in addition to the appliance of latest applied sciences in scientific perform. details on correct websites also are integrated in addition to steered texts for extra analyzing.
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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. These mutations confer a specific gain of function and cause the protein to form intranuclear aggregates that result in cell death. There is usually a clear distinction between normal- and disease-causing alleles in the size of their respective number of repeats and no other types of mutation are found to cause these disorders.
2 Example 5 Example 5 When both parents are affected by the same autosomal dominant disorder the risk of having affected children is high, as shown in example 5. The chance of a child being unaffected is only 1 in 4. The risk of a child being an affected heterozygote is 1 in 2 and of being an affected homozygote is 1 in 4. In most conditions, the phenotype in homozygous individuals is more severe than that in heterozygotes, as seen in familial hypercholesterolaemia and achondroplasia. In some disorders, such as Huntington disease and myotonic dystrophy, the homozygous state is not more severe and this probably reflects the mode of action of the underlying gene mutation.
When paternally derived, the placenta is large and cystic with molar changes and the fetus has a large head and small body. When the extra chromosome set is maternal, the placenta is small and underdeveloped without cystic changes and the fetus is noticeably underdeveloped. An analogous situation is seen in conceptions with only a maternal or paternal genetic contribution. Androgenic conceptions, arising by replacement of the female pronucleus with a second male pronucleus, give rise to hydatidiform moles which lack embryonic tissues.
ABC of Clinical Genetics by Helen M. Kingston