Factor VArg(306)-> Thr (factor V Cambridge) and factor V Arg(306)-> Gly mutations in venous thrombotic disease

Factor VArg(306)-> Thr (factor V Cambridge) and factor V Arg(306)-> Gly mutations in venous thrombotic disease

Author Franco, R. F. Google Scholar
Maffei, Francisco Humberto de Abreu Autor UNIFESP Google Scholar
Lourenco, Dayse Maria Autor UNIFESP Google Scholar
Morelli, Vania Maris [UNIFESP Google Scholar
Thomazini, I. A Autor UNIFESP Google Scholar
Piccinato, C. E. Google Scholar
Tavella, M. H. Google Scholar
Zago, M. A. Google Scholar
Institution Universidade de São Paulo (USP)
FUNDHERP
Universidade Federal de São Paulo (UNIFESP)
Abstract 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 BstNI and MspI 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.
Keywords factor V Arg(306)-> Thr
factor V Arg(306)-> Gly
venous thrombosis
thrombophilia
risk factor
Language English
Date 1998-12-01
Published in British Journal Of Haematology. Oxford: Blackwell Science Ltd, v. 103, n. 3, p. 888-890, 1998.
ISSN 0007-1048 (Sherpa/Romeo, impact factor)
Publisher Blackwell Science Ltd
Extent 888-890
Origin http://onlinelibrary.wiley.com/doi/10.1046/j.1365-2141.1998.01051.x/full
Access rights Acesso Aberto
Type Article
Web of Science ID WOS:000077457400047
URI http://repositorio.unifesp.br/11600/43168

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