S-Space College of Medicine/School of Medicine (의과대학/대학원) Dept. of Medicine (의학과) The Seoul Journal of Medicine The Seoul Journal of Medicine Vol. 35 No.2 (1994)
A Molecular Genetic Study of X-Linked Nephrogenic Diabetes lnspidus
- Cheong, Hae Il
- Issue Date
- Seoul J Med, Vol.35 No.2, pp. 99-103
- Nephrogenic diabetes insipidus; Vasopressin; Vasopressin V2 receptor; Vasopressin V2 receptor gene; Mutation
- X-linked nephrogenic diabetes insipidus (NOI) is a rare disease
characterized by absent vasopressin V2 receptor responses. Recently, the vasopressin
V2 receptor gene (AVPR2 gene) was cloned, and several mutations have been reported
in association with NO!. We analyzed the AVPR2 gene in a family with X-linked NO!.
Genomic DNA was isolated from peripheral blood samples from 11 members of the
family. Four overlapping segments covering the entire coding sequence of the AVPR2
gene were amplified by polymerase chain reaction (PCR) with the genomic DNA And
DNA sequencing was done after subcloning of the PCR products into a plasmid vector.
We found a mutation in the AVPR2 gene, common in 4 symptomatic male patients in
the family. It was a novel missense point mutation at the codon 219 CTG to CCG
resulting a transition of leucine-219, located in the 5th transmembrane domain of the
receptor molecule, to proline. The T to C transition generated a new recognition site for
a restriction enzyme Sma I. And 3 heterozygous female carriers of the mutant gene
were detected by the pattern of Sma I digestion of PCR products including the mutation
site. These results provided a strong evidence for that the mutation was the
cause of NOI in this family.