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Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1

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Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1

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Título Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1
Autor Simon, Daniel
Bandinelli, Eliane
Roisenberg, Israel
Abstract The -1185A/G polymorphism in the 5’-regulatory region of the von Willebrand factor (VWF) gene was associated with VWF plasma levels in a normal population. This study was undertaken to evaluate whether there is a relationship between this polymorphism and type 1 von Willebrand disease (VWD), a disorder characterized by a quantitative deficiency of VWF. The association between this polymorphism and plasma VWF levels in normal Brazilian individuals was also analyzed. Control subjects (n = 460) and type 1 VWD patients (n = 41) were studied. Polymerase chain reaction (PCR) amplification of the 864-bp VWF promoter region followed by AccII restriction-digestion was used to identify the -1185A/G genotypes. The -1185G allele frequency was 57% in normal individuals and 63% in type 1 VWD patients, this difference was not significant (p = 0.29). No significant association was observed between -1185A/G genotypes and VWF plasma levels in normal individuals, although VWF levels were in the same direction as those reported by another study, with subjects carrying the G allele having the lower levels. These results suggest that -1185A/G polymorphism is not associated with the partial deficiency of VWF in type 1 VWD patients.
Contido em Genetics and molecular biology. Ribeirão Preto. Vol. 26, no. 4 (Dec. 2003), p.397-401
Assunto Genética
Polimorfismo
Von Willebrand factor : VWf
[en] Genetics
[en] Promoter polymorphisms
[en] Von Willebrand disease
[en] Von Willebrand factor
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/23382
Arquivos Descrição Formato
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