Journal Article

Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR

Feroza Dawood, Roger Mountford, Roy Farquharson and Siobhan Quenby

in Human Reproduction

Published on behalf of European Society of Human Reproduction and Embryology

Volume 22, issue 9, pages 2546-2553
Published in print September 2007 | ISSN: 0268-1161
Published online July 2007 | e-ISSN: 1460-2350 | DOI: http://dx.doi.org/10.1093/humrep/dem210
Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR

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BACKGROUND

Recurrent miscarriage (RM) has been associated with the thrombophilia, activated protein C resistance (APCR). The factor V Leiden mutation located on the B domain of the factor V gene, causes 95% of APCR and since the B domain is pivotal to APCR, it seemed plausible that other mutations or polymorphisms affecting this active domain may instigate acquired APCR. The objective of this study was to determine whether other polymorphisms exist on the parts of the gene encoding the B domain of the factor V in women with acquired APCR and RM.

METHODS

There were 51 women with RM and acquired APCR, 24 parous women (with no history of miscarriage and at least one normal full-term delivery) and 15 women with a history of idiopathic RM, who formed the study and two control groups, respectively. Six exons of the B domain of the factor V gene were intensely analysed using polymerase chain reactions, single-strand conformation polymorphism, genetic sequencing and restriction enzyme digestion analysis to identify single-nucleotide polymorphisms (SNPs).

RESULTS

A significantly increased frequency of some SNPs on the factor V gene were observed in the women with acquired APCR and RM when compared with the control groups.

CONCLUSIONS

The presence of some of these SNPs may predispose these women to acquired APCR and RM.

Keywords: acquired APCR; polymorphisms; recurrent miscarriage; factor V

Journal Article.  5006 words.  Illustrated.

Subjects: Reproductive Medicine

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