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The factor V HR2 haplotype: Prevalence and association of the A4070G and A6755G polymorphisms

Pecheniuk, N. M., Morris, C. P. , Walsh, T. P. , & Marsh, N. A. (2001) The factor V HR2 haplotype: Prevalence and association of the A4070G and A6755G polymorphisms. Blood Coagulation and Fibrinolysis, 12(3), pp. 201-206.

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Abstract

Recently, a polymorphism was identified in exon 25 of the factor V gene that is possibly a functional candidate for the HR2 haplotype. This haplotype is characterized by a single base substitution named R2 (A4070G) in the B domain of the protein. A mutation (A6755G; 2194Asp→Gly) located near the C terminus has been hypothesized to influence protein folding and glycosylation, and might be responsible for the shift in factor V isoform (FV1 / FV2) ratio. This study investigated the prevalence of these two factor V HR2 haplotype polymorphisms in a cohort of normal blood donors, patients with osteoarthritis and women with complications during pregnancy, and in families of factor V Leiden individuals. A high allele frequency for the two polymorphisms was found in the blood donor group (6.2% R2, 5.6% A6755G). No significant difference in allele frequency was observed in the clinical groups (obstetric complications and osteoarthritis, 4.1-4.9% for the two polymorphisms) when compared with that of healthy blood donors. We confirm that the factor V A6755G polymorphism shows strong linkage to the R2 allele, although it is not exclusively inherited with the exon 13 A4070G variant and can occur independently. © 2001 Lippincott Williams & Wilkins.

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13 citations in Scopus
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11 citations in Web of Science®

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ID Code: 43502
Item Type: Journal Article
Keywords: Factor V, Factor V leiden, HR2 haplotype, R2 allele, Thrombophilia, blood clotting factor 5, blood clotting factor 5 Leiden, isoprotein, adult, amino acid substitution, article, carboxy terminal sequence, controlled study, DNA polymorphism, exon, female, gene frequency, gene mutation, genetic linkage, glycosylation, haplotype, human, male, normal human, osteoarthritis, pregnancy complication, prevalence, priority journal, protein domain, protein folding, Alleles, Blood Donors, Cohort Studies, Deoxyribonucleases, Type II Site-Specific, Exons, Family Health, Genetic Predisposition to Disease, Haplotypes, Humans, Phosphorylation, Point Mutation, Polymorphism, Genetic, Pregnancy, Pregnancy Complications, Protein Isoforms, Protein Processing, Post-Translational, Protein Structure, Tertiary, Substrate Specificity
DOI: 10.1097/00001721-200104000-00006
ISSN: 0957-5235
Divisions: Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Lippincott, Williams & Wilkins
Deposited On: 22 Jul 2011 16:14
Last Modified: 25 Jul 2011 13:53

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