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Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients
Chen, CH; Chen, WY; Liu, HL; Liu, TT; Tsou, AP; Lin, CY; Chao, T; Qi, Y; Hsiao, KJ
关键词vasopressin receptor gene mutation polymorphism nephrogenic diabetes insipidus Chinese functional expression
刊名JOURNAL OF HUMAN GENETICS
2002
47期:2页:66-73
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]HUMAN ANTIDIURETIC-HORMONE ; V2 RECEPTOR ; LOCALIZATION ; CLONING ; AVPR2 ; XQ28
英文摘要

Congenital nephrogenic diabetes insipidus (NDI) is. in most instances, a rare X-linked recessive renal disorder (MIM 304800) characterized by the clinical symptoms of polyuria, polydipsia, and dehydration. The X-Linked NDI is associated with mutations of the arginine vasopressin receptor type 2 (AVPR2) gene, which results in resistance. p C to the antidiuretic action of arginine vasopressin (AVP) in the renal tubules and collecting ducts. Identification of mutations in the AVPR2 gene can facilitate early diagnosis of NDI, which can prevent serious complications such as growth retardation and mental retardation. We analyzed three unrelated Chinese NDI families and identified three mutations: R106C, F287L, and R337X. In addition, an A/G polymorphism at cDNA nucleotide position 927 (codon 309L) was identified. A functional expression assay of the R106C and F287L mutants in COS-7 cells revealed that both mutants show significant dysfunction and accumulate intracellular cyclic adenosine monophosphate in response to AVP hormone stimulation. These results facilitate the diagnosis of NDI at the molecular level in the Chinese population, and provide insight into the molecular pathology of NDI.

语种英语
WOS记录号WOS:000174103200003
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被引频次:21[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58899
专题北京大学第一临床医学院
作者单位1.Tzu Chi Univ, Hualien, Taiwan
2.Natl Yang Ming Univ, Inst Genet, Taipei 112, Taiwan
3.Taipei Vet Gen Hosp, Dept Pediat, Taipei, Taiwan
4.Chao Ting Pediat Clin, Taipei, Taiwan
5.Peking Univ, First Hosp, Beijing 100871, Peoples R China
6.Natl Yang Ming Univ, Genome Res Ctr, Taipei 112, Taiwan
7.Tzu Chi Gen Hosp, Dept Psychiat, Hualien, Taiwan
8.Taipei Vet Gen Hosp, Dept Med Res & Educ, Clin Biochem Res Lab, Taipei 11216, Taiwan
9.Natl Yang Ming Univ, Inst Biotechnol Med, Taipei 112, Taiwan
10.Natl Yang Ming Univ, Dept Microbiol & Immunol, Taipei 112, Taiwan
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GB/T 7714
Chen, CH,Chen, WY,Liu, HL,et al. Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients[J]. JOURNAL OF HUMAN GENETICS,2002,47(2):66-73.
APA Chen, CH.,Chen, WY.,Liu, HL.,Liu, TT.,Tsou, AP.,...&Hsiao, KJ.(2002).Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.JOURNAL OF HUMAN GENETICS,47(2),66-73.
MLA Chen, CH,et al."Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients".JOURNAL OF HUMAN GENETICS 47.2(2002):66-73.
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