| Registro completo |
| Provedor de dados: |
BJMBR
|
| 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<FONT FACE="Symbol">®</font>T alteration in the third position of codon 331 (AGC<FONT FACE="Symbol">®</font>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
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
