成人经典型Bartter综合征家系CLCNKB基因突变的研究  

Study on CLCNKB gene mutation in a late-onset Chinese patient with classic Bartter syndrome

作　　者：于迎[1] 潘晓霞[1] 任红[1] 王伟铭[1] 陈楠[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾内科,200025

出　　处：《中华肾脏病杂志》2010年第8期598-602,共5页Chinese Journal of Nephrology

基　　金：上海市卫生局重点学科基金（05Ⅲ001）;上海市重点学科基金（T0201）;上海市卫生局重点课题（2003ZD002）

摘　　要：目的 分析1个成人经典型Barrier综合征家系CLCNKB基因突变特点.方法 用PCR方法对先证者CLCNKB基因19个外显子及侧翼序列进行扩增,PCR产物纯化后直接测序或构建T-A克隆测序检测其基因变异.结果 先证者CLCNKB基因表现为G433E和cDNA 753delG复合杂合突变.家系分析表明,杂合错义突变G433E来自父亲,杂合缺失突变cDNA 753delG来自母亲.患者弟弟携G433E,其妹妹正常.正常对照100条染色体中未发现同样变异.结论 在1个成人迟发经典型Bartter综合征家系中发现了CLCNKB基因2个突变位点,经检索文献及人类基因突变库（HGMD）,cDNA 753delG为新发现突变位点.Objective To investigate the underlying mutation in a late-onset Chinese patient with classic Bartter syndrome. Methods The mutation analysis of CLCNKB gene was performed by the PCR direct sequencing. The patient＇s parents and siblings were studied as well. Fifty normal volunteers were analyzed as control group. Results The heterozygous deletion mutation cDNA 753delG and heterozygous missense mutation G433E were detected in the patient. Her father was found to carry heterozygous G433E and her mother to carry cDNA 753delG mutation respectively. Her brother carried heterozygous G433E and her sister was normal. Conclusions Two mutations of the CLCNKB gene in this Chinese patient with late-onset classic Bartter syndrome are identified. The cDNA 753delG mutation has not been reported previously.

关 键 词：BARTTER综合征 突变 CLCNKB基因 

分 类 号：R692.6[医药卫生—泌尿科学]