Analysis of CLCNKB gene mutation in a family with classic Bartter syndrome / 中华肾脏病杂志

ABSTRACT

Objective 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.