A novel polymorphism in the coding region of the vasopressin type 2 receptor gene

Brazilian Journal of Medical and Biological Research

J.l. Rocha¹  A. Moreira¹  E. Friedman¹  B. Liberman¹  B.c. Silva¹  L. De-marco¹ 

关键词: vasopressin;    receptor;    polymorphism;    diabetes insipidus;    receptor gene polymorphism;   

DOI  :  10.1590/S0100-879X1997000400002

来源: SciELO

【 摘 要 】

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®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

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