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

Pecheniuk, N. M., Morris, C. P., Walsh, T. P., and 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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Recently, a polymorphism was identi®ed 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 in¯uence 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 signi®cant 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 con®rm 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.

Item ID: 8416
Item Type: Article (Research - C1)
ISSN: 1473-5733
Keywords: factor V; factor V Leiden; HR2 haplotype; R2 allele; thrombophilia
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Date Deposited: 30 Mar 2010 01:48
FoR Codes: 06 BIOLOGICAL SCIENCES > 0604 Genetics > 060499 Genetics not elsewhere classified @ 50%
11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110299 Cardiovascular Medicine and Haematology not elsewhere classified @ 40%
06 BIOLOGICAL SCIENCES > 0699 Other Biological Sciences > 069999 Biological Sciences not elsewhere classified @ 10%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920101 Blood Disorders @ 30%
97 EXPANDING KNOWLEDGE > 970106 Expanding Knowledge in the Biological Sciences @ 70%
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