Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

ABSTRACT:

Background

Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2 (AVPR2) gene. To investigate the mutation of AVPR2 gene in a Chinese family with congenital NDI, we screened AVPR2 gene in two NDI patients and eight family members by PCR amplification and direct sequencing.

Results

Five specific fragments, covering entire coding sequence and their flanking intronic sequences of AVPR2 gene, were not observed in both patients, while those fragments were all detected in the control subjects. Several different fragments around the AVPR2 locus were amplified step by step. It was revealed that a genomic fragment of 5,995-bp, whi

SUBMITTER: Dong Y 

PROVIDER: S-EPMC1657029 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature