Factor V Arg306 → Thr (factor V Cambridge) and factor V Arg306 → Gly mutations in venous thrombotic disease
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Data
1998-01-01
Orientador
Coorientador
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Curso de graduação
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Editor
Blackwell Science
Tipo
Artigo
Direito de acesso
Acesso aberto
Resumo
We investigated the prevalence of two reported mutations of the factor V gene (factor V Arg306 → Thr, or factor V Cambridge, and factor V Arg306 → 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 Arg306 → Thr mutation and one heterozygous for the factor V Arg306 → Gly mutation; none of the patients carried either mutation. Our findings do not support factor V Cambridge and factor V Arg306 → Gly as risk factors for venous thrombosis.
Descrição
Palavras-chave
Factor V Arg306 → Gly, Factor V Arg306 → Thr, Risk factor, Thrombophilia, Venous thrombosis, Blood clotting factor 5, Adolescent, Adult, Amino acid substitution, Child, Dna sequence, Female, Gene mutation, Genotype, Heterozygosity, Human, Major clinical study, Male, Prevalence, Priority journal, Vein thrombosis, Genetic predisposition, Genetics, Infant, Middle aged, Mutation, Preschool child, Risk factor, Adolescent, Adult, Amino Acid Substitution, Child, Child, Preschool, Factor V, Female, Genetic Predisposition to Disease, Humans, Infant, Male, Middle Aged, Mutation, Risk Factors, Venous Thrombosis
Idioma
Inglês
Como citar
British Journal of Haematology, v. 103, n. 3, p. 888-890, 1998.