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vol.26 número4Genetic differentiation in geographically close populations of the water rat Nectomys squamipes (Rodentia, Sigmodontinae) from the Brazilian Atlantic Forest índice de autoresíndice de assuntospesquisa de artigos
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Genetics and Molecular Biology

versão impressa ISSN 1415-4757

Resumo

SIMON, Daniel; BANDINELLI, Eliane  e  ROISENBERG, Israel. Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1. Genet. Mol. Biol. [online]. 2003, vol.26, n.4, pp.397-401. ISSN 1415-4757.  https://doi.org/10.1590/S1415-47572003000400001.

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.

Palavras-chave : von Willebrand factor; promoter polymorphisms; genetics; von Willebrand disease.

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