A molecular model for sporadic human aneuploidy

Warren, William D., and Gorringe, Kylie L. (2006) A molecular model for sporadic human aneuploidy. Trends in Genetics, 22 (4). pp. 218-224.

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Aneuploidy is a leading cause of birth defects and a significant contributor to infertility in humans. Maternal age is the only well-established risk factor for gametic aneuploidy in the general population, with the underlying cause(s) yet to be identified. Here we present an extension of the ‘two-hit’ model for sporadic human aneuploidy. An important implication of this model is that the genetic makeup of an individual will influence the threshold where recombinationally at-risk oocytes (hit-1 events) become sensitive to the effects of advancing age (hit-2 events). Consequently, the age-related risk of gametic aneuploidy in many individuals is likely to differ significantly from the population average, and single nucleotide polymorphisms (SNPs) associated with altered risk should be identifiable.

Item ID: 175
Item Type: Article (Research - C1)
ISSN: 0168-9525
Keywords: birth defects, chromosome errors, infertility, maternal age, human genetics
Date Deposited: 17 Aug 2006
FoR Codes: 06 BIOLOGICAL SCIENCES > 0604 Genetics > 060402 Cell and Nuclear Division @ 100%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 100%
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