Data/hora: 09/06/2024 08:22:52

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1	
Autores: 	Simon,Daniel; Bandinelli,Eliane; Roisenberg,Israel.	
Data: 	2003-12-01	
Ano: 	2003	
Palavras-chave: 	Von Willebrand factor; Promoter polymorphisms; Genetics; Von Willebrand disease.	
Resumo: 	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.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400001	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572003000400001	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.26 n.4 2003	
Fonte: 	info:eu-repo/semantics/openAccess