Data/hora: 05/06/2024 13:59:44

Provedor de dados: | 56
País: | Brazil
Título: | A novel polymorphism in the coding region of the vasopressin type 2 receptor gene
Data: | 1997-04-01
Ano: | 1997
Palavras-chave: | Vasopressin; Receptor; Polymorphism; Diabetes insipidus; Receptor gene polymorphism.
Resumo: | Nephrogenic diabetes insipidus (NDI) is a rare disease characterized by renal inability to respond properly to arginine vasopressin due to mutations in the vasopressin type 2 receptor (V2(R)) gene in affected kindreds. In most kindreds thus far reported, the mode of inheritance follows an X chromosome-linked recessive pattern although autosomal-dominant and autosomal-recessive modes of inheritance have also been described. Studies demonstrating mutations in the V2(R) gene in affected kindreds that modify the receptor structure, resulting in a dys- or nonfunctional receptor have been described, but phenotypically indistinguishable NDI patients with a structurally normal V2(R) gene have also been reported. In the present study, we analyzed exon 3 of the V2(R) gene in 20 unrelated individuals by direct sequencing. A C&lt;FONT FACE="Symbol"&gt;®&lt;/font&gt;T alteration in the third position of codon 331 (AGC&lt;FONT FACE="Symbol"&gt;®&lt;/font&gt;AGT), which did not alter the encoded amino acid, was found in nine individuals, including two unrelated patients with NDI. Taken together, these observations emphasize the molecular heterogeneity of a phenotypically homogeneous syndrome
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000400002
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X1997000400002
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.30 n.4 1997
Fonte: | info:eu-repo/semantics/openAccess