The genetic basis of infertility

Shah, Kavita and Sivapalan, Gayathri and Gibbons, Nicola J. and Tempest, Helen G. and Griffin, Darren K. (2003) The genetic basis of infertility. Reproduction, 126 (1). pp. 13-25. ISSN 1470-1626 . (The full text of this publication is not available from this repository)

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Official URL
http://dx.doi.org/10.1530/rep.0.1260013

Abstract

Infertility is defined as the inability to conceive after one year of regular unprotected intercourse; approximately one in six couples wishing to start a family fall into this category. Although, in many cases, the diagnosis is simply 'unexplained', a variety of reasons including lack of ovulation, mechanical stoppage, sperm deficiencies and parental age have been implicated. It is difficult to assess accurately the overall magnitude of the contribution of genetics to infertility as most, if not all, conditions are likely to have a genetic component, for example susceptibility to infection. Nevertheless, a significant number of infertility phenotypes have been associated with specific genetic anomalies. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. For example, chromosome translocations affect both males and females, whereas Klinefelter syndrome and the subsequent infertility phenotype caused by it are specific to males. This article reviews current research in the genetic basis of infertility; gender-specific disorders and those affecting both sexes are considered.

Item Type: Article
Additional information: 12814343 1470-1626
Uncontrolled keywords: Adult Aneuploidy Chromosome Aberrations Chromosome Disorders Female Gene Deletion Genotype Humans Infertility Inversion, Chromosome Male Maternal Age Phenotype Sex Chromosome Disorders Translocation, Genetic
Subjects: Q Science
Divisions: Faculties > Science Technology and Medical Studies > School of Biosciences
Depositing User: Darren Griffin
Date Deposited: 12 Sep 2008 11:43
Last Modified: 07 May 2014 14:29
Resource URI: http://kar.kent.ac.uk/id/eprint/12482 (The current URI for this page, for reference purposes)
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