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Factor V Arg 306 → Thr (factor V Cambridge) and factor V Arg 306 → Gly mutations in venous thrombotic disease
Author(s) -
Rendrik F. Franco,
Francisco Humberto de Abreu Maffei,
Dayse Maria Lourenço,
Vânia M. Morelli,
I. A. Thomazini,
Carlos Eli Piccinato,
Marli Haydee Tavella,
Marco Antônio Zago
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.01051.x
Subject(s) - risk factor , mutation , venous thrombosis , factor v , medicine , genotype , thrombosis , endocrinology , gastroenterology , genetics , biology , gene
We investigated the prevalence of two reported mutations of the factor V gene (factor V Arg 306 → Thr, or factor V Cambridge, and factor V Arg 306 → Gly) in 104 relatively young patients with verified venous thrombosis and in 208 age‐, sex‐ and race‐matched controls, in order to establish whether the two mutations are associated with increased predisposition for venous thrombosis. PCR amplification followed by Bst NI and Msp I digestion was employed to determine the genotypes, and each mutation was confirmed by DNA sequencing. Among the controls, one individual was found to be heterozygous for the factor V Arg 306 → Thr mutation and one heterozygous for the factor V Arg 306 → Gly mutation; none of the patients carried either mutation. Our findings do not support factor V Cambridge and factor V Arg 306 → Gly as risk factors for venous thrombosis.