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Is There a Paternal Age Effect for Aneuploidy?

Fonseka, K.G.L., Griffin, Darren K. (2011) Is There a Paternal Age Effect for Aneuploidy? Cytogenetic and Genome Research, 133 (2-4). pp. 280-291. ISSN 1424-8581. (doi:10.1159/000322816) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) (KAR id:34150)

The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided.
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Finding a positive association between paternal age and the incidence of aneuploidy is not difficult. A cursory analysis however reveals that any association is indirect, brought about by a close correlation between paternal age and maternal age. Approaches for dissecting out the confounding age effects of the mother has led to a lively exchange among epidemiologists, with perhaps a consensus for the absence of a paternal age effect, at least for trisomy 21. Molecular studies revealed the relatively minor contribution of paternal errors to trisomy, but even research on the paternally derived trisomies alone has been inconclusive; thus studies focussed directly on the sperm heads. Human-hamster fusion assays were superseded by FISH for establishing any possible link between age and the proportion of disomic sperm in an ejaculate. Despite innumerable microscope hours however, although convincing studies suggesting an age effect for disomies 1, 9, 18 and 21 and the sex chromosomes are in the literature, others failed to notice any association for these or other chromosomes. It is biologically plausible that chromosomal non-disjunction errors should increase with age. Male reproductive hormone production, testicular morphology and semen parameters all decline slowly with age and paternal age is implicated in congenital birth defects, such as achondroplasia and Apert syndromes and also linked to compromised DNA repair mechanisms. Despite several decades of epidemiological and molecular cytogenetic studies, however, we are still not close to a definitive answer of whether or not there is a paternal age effect for aneuploidy. In this review we conclude by questioning the efficacy of FISH because of difficulties in detecting nullisomy and because of evidence that the centromeres (from which most sperm-FISH probes are derived) cluster at the nuclear centre. Array-based approaches may well supersede FISH in addressing the question of a paternal age effect; for now, however, the jury is still out.

Item Type: Article
DOI/Identification number: 10.1159/000322816
Subjects: Q Science
Divisions: Divisions > Division of Natural Sciences > Biosciences
Depositing User: Darren Griffin
Date Deposited: 06 Jun 2013 08:59 UTC
Last Modified: 16 Nov 2021 10:11 UTC
Resource URI: (The current URI for this page, for reference purposes)
Griffin, Darren K.:
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