抄録
We detected a novel mutation in the V2 vasopressin receptor gene of two siblings with X-linked congenital nephrogenic diabetes insipidus (CNDI). In two siblings, a C to T substitution was found at nucleotide 1035, altering codon 322 from Pro (CCC) to Ser (TCC) in the seventh transmembrane region by polymerase chain reaction (PCR)-amplification and direct sequencing of V2 receptor gene. This amino acid substitution occurred at residues highly conserved in the G-protein-coupled receptor family. This mutation cosegregated with the phenotype of diabetes insipidus and is thought to be a cause of arginine vasopressin (AVP) resistance.
