Identification of a mutation in the arginine vasopressin receptor 2 gene in a Chinese pedigree with congenital nephrogenic diabetes insipidus / 中华内分泌代谢杂志

ABSTRACT

Genomic DNA was extracted from the blood samples of 3 patients from 1 pedigree with congenital nephrogenie diabetes insipidus (NDI) and their 12 family members.The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and then directly sequenced,A mutation of AVPR2 gene [g1236T→C (L292P)]was found in 3 patients.The patients' mothers were found to have both mutant and normal alleles.