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Journal of the Korean Society of Pediatric Nephrology 1999;3(2): 209-216.
신성요붕증 가계에서 바소프레신 V2 수용체(AVPR2) 유전자 분석 : AVPR2 유전자 R202C 돌연변이의 발견
박준동, 김호성, 김희주, 이윤경, 곽영호, 하일수, 정해일, 최용, 박혜원
1서울특별시립 보라매병원 소아과
2서울특별시립 보라매병원 소아과
3서울특별시립 보라매병원 소아과
4중앙대학교 분자세포학과
5서울대학교 의과대학 소아과학교실
6서울대학교 의과대학 소아과학교실
7서울대학교 의과대학 소아과학교실
8서울대학교 의과대학 소아과학교실
9서울특별시립 보라매병원 소아과
Analysis of Vasopressin Receptor Type 2(AVPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus : Identification of a Family with R202C Mutation in AVPR2 Gene
June-Dong Park, Ho-Sung Kim, Hee-Joo Kim, Yoon-Kyung Lee, Young-Ho Kwak, Il-Soo Ha, Hae-Il (NULL) Cheong, Yong Choi, Hye-Won Park
1Department of Pediatrics, Seoul Municipal Boramae Hospital
2Department of Pediatrics, Seoul Municipal Boramae Hospital
3Department of Pediatrics, Seoul Municipal Boramae Hospital
4College of Molecular Cytology, Joongang University
5Department of Pediatrics, Seoul National University, College of Medicine
6Department of Pediatrics, Seoul National University, College of Medicine
7Department of Pediatrics, Seoul National University, College of Medicine
8Department of Pediatrics, Seoul National University, College of Medicine
9Department of Pediatrics, Seoul Municipal Boramae Hospital
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ABSTRACT
Purpose : Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). The hypothesis that the defect underlying NDI might be a dysfunctional renal AVPR2 has recently been proven by the identification of mutations in the AVPR2 gene in NDT patients. To investigate the association of mutations in th AVPR2 gene with NDI, we analyzed the AVPR2 gene located on the X chromosome.
Methods : We have analyzed the AVPR2 gene in a kindred with X-linked NDI. The proband and proband's mother were analyzed by polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP) and DNA sequencing of the AVPR2 gene. We also have used restriction enzyme analysis of genomic PCR product to evaluate the AVPR2 gene.
Results : C to T transition at codon 202, predictive of an exchange of tryptophan 202 by cysteine(R202C) in the third extracellular domain was identified. This mutation causes a loss of Hae III site within the gene.
Conclusion : We found a R202C missense mutation in the AVPR2 gene causing X-linked NDI, and now direct mutational analysis is available for carrier screening and early diagnosis.
Key words: Nephrogenic diabetes insipidus | Vasopressin V2 receptor gene | Mutations | R202C
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A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene  2011 October;15(2)
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