摘要目的 研究一个经典型Banter综合征家系CLCNKB基因突变情况.方法 提取该家系各成员患者外周血淋巴细胞基因组DNA,应用PCR扩增CLCNKB基因全部外显子及侧翼序列,并直接测序检测突变.选取50例无亲缘关系的健康人作为对照.结果 在患者中榆测到1个杂合(错义)突变,其第4号外显子,第482位碱基T→G突变,造成第161位氨基酸由亮氨酸变为精氨酸(482T>G,L161R);家系中母亲为杂合突变(L161R杂合突变),父亲未发现突变;查阅国内外文献及人类基因突变数据库,L161R未见报道,属新发现的突变.结论 发现了一种新的CLCNKB基因突变:L161R.

abstractsObjective To investigate the mutations of CLCNKB gene in a family with classic Bartter syndrome. Methods Genetic DNA was extracted from peripheral blood leucocytes of family members.The coding exons and intron exon junctions of CLCNKB gene were amplyfied by PCR and sequenced directly.Fifty unrelated healthy subjects were selected to exclude the possibility of polymorphism. Results A heterozygous(missense)mutation(482T>G,L161R)was detected in the exon 4 of patients.The hetemzygous mutation(L161R)was found in the mother,while no mutation was found in the father of this family.L161R had not been reported and was a novel mutation when referring to literatures and human genomic database home and abroad.Conclusion A new CLCNKB gene mutation(L161R)is identified for the first time.