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Uniparental disomy and human disease: An overview

✍ Scribed by Kazuki Yamazawa; Tsutomu Ogata; Anne C. Ferguson-Smith


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
432 KB
Volume
154C
Category
Article
ISSN
1552-4868

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Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988;Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as

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DNA repair systems act to maintain genome integrity in the face of replication errors, environmental insults, and the cumulative effects of age. More than 70 human genes directly involved in the five major pathways of DNA repair have been described, including chromosomal location and cDNA sequence.