By Helen M. Kingston

ISBN-10: 0727916270

ISBN-13: 9780727916273

This ABC is a concise, hugely illustrated creation to genetic mechanisms fascinated about inherited problems. the recent version has been generally up-to-date with new and revised chapters to surround swift advances within the box. simple genetic techniques are defined besides the applying of latest applied sciences in scientific perform. details on suitable websites also are integrated in addition to urged texts for additional interpreting.

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2 Uniparental disomy (heterodisomy) due to nondisjunction at meiosis I Unusual inheritance mechanisms parent (normal), two identical chromosomes from one parent (isodisomy) or two different chromosomes from one parent (heterodisomy). Occasionally UPD may arise by fertilisation of a monosomic gamete followed by duplication of the chromosome from the other gamete (monosomy rescue). This mechanism results in uniparental isodisomy. Theoretically, UPD could also arise by fertilisation of a momosomic gamete with a disomic gamete, resulting in either isodisomy or heterodisomy.

4 Examples of autosomal recessive disorders Congenital adrenal hyperplasia Cystic fibrosis Deafness (some forms) Friedreich ataxia Galactosaemia Haemochromatosis Homocystinuria Hurler syndrome (MPS I) Oculocutaneous albinism Phenylketonuria Sickle cell disease Tay–Sachs disease Thalassaemia New mutations New mutations are rare in autosomal recessive disorders and it can generally be assumed that both parents of an affected child are carriers. New mutations have occasionally been documented and occur in about 1% of SMA type I cases, where a child inherits a mutation from one carrier parent with a new mutation arising in the gene inherited from the other, non-carrier parent.

In retinoblastoma, non-penetrance arises because a second somatic mutation needs to occur before a person who inherits the gene develops an eye tumour. For disorders that demonstrate non-penetrance, unaffected individuals cannot be completely reassured that they will not transmit the disorder to their children. This risk is fairly low (not exceeding 10%) because a clinically unaffected person is unlikely to be a carrier if the penetrance is high, and the chance of a gene carrier developing symptoms is small if the penetrance is low.

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