Identification of a mutation in the arginine vasopressin receptor 2 gene in a Chinese pedigree with congenital nephrogenic diabetes insipidus
- VernacularTitle:一个先天性肾性尿崩症家系精氨酸血管升压素受体2基因的突变检测
- Author:
Xue-Ru CHEN
;
Yan DONG
;
Jun YIN
;
Hui-Li XING
;
Qing SU
;
- Publication Type:Journal Article
- Keywords:
Diabetes insipidus,nephrogenic;
Receptors,vasopressin;
Mutation
- From:
Chinese Journal of Endocrinology and Metabolism
1985;0(02):-
- CountryChina
- Language:Chinese
-
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.
