Mutation Analysis of AVPR2 and AQP2 Gene in Chinese Patients with Congenital Nephrogenic Diabetes Insipidus  

作　　者：WANG Ying LI Hong-jun YU Zhen-xiang BAO Yong-li WU Yin YU Chun-lei MENG Xiang-ying LI Yu-xin 

机构地区：[1]Institute of Genetics and Cytology, Northeast Normal University, Changchun 130024, P. R. China [2]Out-patient Department, China-Japan Union Hospital of Jilin University, Changchun 130033, P. R. China [3]Department of Respiratory Medicine, First Hospital of Jilin University, Changchun 130021, P. R. China [4]Research Center of Agriculture and Medicine Gene Engineering of Ministry of Education, Northeast Normal University, Changchun 130024, P. R. China

出　　处：《Chemical Research in Chinese Universities》2008年第3期312-315,共4页高等学校化学研究（英文版）

基　　金：the National High Technology Research and Development Program of China(No.2004AA2Z3782);Key Grant of Jilin Science & Technology Committee(No.20060904);Program for New Century Excellent Talents in Universities of China (No.NCET-06-0320);Foundation of Fostering Science and Technology Innovation Program of Northest Normal University (No.NENU-STB07008);Analysis and Testing Foundation of Northest Normal University.

摘　　要：To detect mutations of the aquaporin 2 gene（AQP2） and the arginine vasopressin V2 receptor gene（AVPR2） of Chinese congenital nephrogenic diabetes insipidus, and to establish the foundation for further studying the emergence mechanism of the disease and clinical diagnosis, all the exons and part of introns of AQP2 and AVPR2 genes were amplified with intronic primers, using genomic DNA extracted from three patients with congenital nephrogenic diabetes insipidus and two mothers as template, PCR product was ligated into a T-vector and then sequenced. The result was compared with the database sequence to identify the mutable sites via a BLAST search, the incidence of every mutation was analyzed, and the putative transcription factor binding sites that maybe disturbed were analyzed by MAPPER. Mutation g.1394A〉G in exon 3 of AVPR2 was detected in all the subjects, g.861C〉T（S167L） in exon 2 of AVPR2 and IVS1＋3G〉A in intron of AQP2 were detected, respectively, in two patients, and c.836A〉C in 3′ untranslated region of AQP2 was detected in two patients and one mother. Four mutations were identified. g.1394A〉G of AVPR2 and c.836A〉C of AQP2 have high incidence in patients with nephrogenic diabetes insipidus. Detection on the two sites may become auxiliary diagnosis index of congenital nephrogenic diabetes insipidus.To detect mutations of the aquaporin 2 gene（AQP2） and the arginine vasopressin V2 receptor gene（AVPR2） of Chinese congenital nephrogenic diabetes insipidus, and to establish the foundation for further studying the emergence mechanism of the disease and clinical diagnosis, all the exons and part of introns of AQP2 and AVPR2 genes were amplified with intronic primers, using genomic DNA extracted from three patients with congenital nephrogenic diabetes insipidus and two mothers as template, PCR product was ligated into a T-vector and then sequenced. The result was compared with the database sequence to identify the mutable sites via a BLAST search, the incidence of every mutation was analyzed, and the putative transcription factor binding sites that maybe disturbed were analyzed by MAPPER. Mutation g.1394A〉G in exon 3 of AVPR2 was detected in all the subjects, g.861C〉T（S167L） in exon 2 of AVPR2 and IVS1＋3G〉A in intron of AQP2 were detected, respectively, in two patients, and c.836A〉C in 3′ untranslated region of AQP2 was detected in two patients and one mother. Four mutations were identified. g.1394A〉G of AVPR2 and c.836A〉C of AQP2 have high incidence in patients with nephrogenic diabetes insipidus. Detection on the two sites may become auxiliary diagnosis index of congenital nephrogenic diabetes insipidus.

关 键 词：Nephrogenic diabetes insipidus Gene mutation AQP2 A VPR2 

分 类 号：R587.1[医药卫生—内分泌]