A novel polymorphism in the coding region of the vasopressin type 2 receptor gene
Braz. j. med. biol. res
; 30(4): 443-5, Apr. 1997. ilus
Artigo
em Inglês
| LILACS
| ID: lil-191380
Biblioteca responsável:
BR1.1
ABSTRACT
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 a 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(T alteration in the third position of codon 331 (AGC(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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Polimorfismo Genético
/
Receptores de Vasopressinas
/
Diabetes Insípido Nefrogênico
Limite:
Humanos
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
1997
Tipo de documento:
Artigo
/
Congresso e conferência