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Hum. Reprod. Advance Access originally published online on July 19, 2007
Human Reproduction 2007 22(9):2546-2553; doi:10.1093/humrep/dem210
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

Feroza Dawood1,4, Roger Mountford2, Roy Farquharson3 and Siobhan Quenby1

1 Department of Reproductive and Developmental Health, Liverpool Women's Hospital, University of Liverpool, Crown Street, Liverpool L8 7SS, UK 2 Department of Molecular Genetics, Liverpool Women's Hospital, Crown Street, Liverpool L8 7SS, UK 3 Department of Obstetrics and Gynaecology, Liverpool Women's Hospital, Crown Street, Liverpool L8 7SS, UK

4 Correspondence address. Tel: +44 151 702 4112; Fax: +44 151 702 4024; E-mail: fdawood{at}liv.ac.uk

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.

Key words: acquired APCR/polymorphisms/recurrent miscarriage/factor V

Submitted on April 12, 2007; resubmitted on May 25, 2007; accepted on June 13, 2007.


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