Analysis of CLCNKB gene mutation in a family with classic Bartter syndrome
10.3760/cma.j.issn.1001-7097.2011.06.003
- VernacularTitle:经典型Bartter综合征家系CLCNKB基因突变分析
- Author:
Maojing LIU
;
Ying YU
;
Jie GAO
;
Li FAN
;
Zhao HU
- Publication Type:Journal Article
- Keywords:
Bartter syndrome;
Mutation;
CLCNKB gene
- From:
Chinese Journal of Nephrology
2011;27(6):395-399
- CountryChina
- Language:Chinese
-
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.
