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 Type:||Article (Refereed Research - C1)|
|Keywords:||birth defects, chromosome errors, infertility, maternal age, human genetics|
|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%|
|Deposited On:||17 Aug 2006|
|Last Modified:||04 Jun 2013 00:17|
Last 12 Months: 0
|Citation Counts with External Providers:||Web of Science: 16|
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