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Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.
Kanada.
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1995 (English)In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 4, no 2, p. 189-95Article in journal (Refereed) Published
Abstract [en]

We have analysed the CAG repeat in the Huntington disease (HD) gene in sperm and blood from 20 unrelated HD patients. Although the CAG repeat displayed significant mosaicism in sperm from all individuals, there were marked differences in the degree of repeat instability. Individuals who had either inherited or transmitted an expanded CAG repeat displayed the highest levels of repeat mosaicism, whereas individuals who had inherited or transmitted a contracted repeat had very limited CAG mosaicism in sperm. A strong association between intergenerational change in CAG allele size and the level of sperm repeat mosaicism was determined (P = 0.019). In contrast, neither blood CAG size nor repeat mosaicism in blood, were significantly associated with intergenerational CAG changes. These data suggest the presence of a cis-acting factor, separate from CAG size, that strongly influences the intergenerational behaviour of the CAG repeat. Additional studies are needed to determine whether analysis of CAG mosaicism in sperm is useful for assessing an individual's risk for transmitting large expansions or contractions to his offspring.

Place, publisher, year, edition, pages
1995. Vol. 4, no 2, p. 189-95
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Nursing
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URN: urn:nbn:se:esh:diva-7478DOI: 10.1093/hmg/4.2.189PubMedID: 7757066OAI: oai:DiVA.org:esh-7478DiVA, id: diva2:1315907
Available from: 2019-05-15 Created: 2019-05-15 Last updated: 2019-05-21Bibliographically approved

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