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目的:对青岛地区10例可疑Gitelman综合征患者致病基因SLC12A3和CLCNKB的突变特点进行分析。方法:通过直接测序的方法进行突变分析。选取100例健康人作为对照。结果:共确定SLC12A3基因9个突变位点,其中3个为新突变位点,包括2个错义突变:Glu429Lys,Ala264Gly;1个缺失突变:1740del C。6个已报道过的突变,其中包括5个错义突变:Cys430Gly,Asp486Asn,Ser283Tyr,Thr163Met,Arg913Gln;1个缺失突变:2877_2878del AC。10例患者中8例携带Ala264Gly纯合突变,4例携带Asp486Asn杂合突变,大部分患者为复合杂合突变。结论:本研究共发现9个突变位点,其中3个新突变位点。
Objective: To analyze the mutation characteristics of pathogenic genes SLC12A3 and CLCNKB in 10 cases of suspected Gitelman syndrome in Qingdao area. Methods: Mutation analysis was performed by direct sequencing. Select 100 healthy people as a control. Results: A total of 9 SLC12A3 gene mutation sites were identified, of which 3 were novel mutation sites, including 2 missense mutations: Glu429Lys, Ala264Gly; 1 deletion mutation: 1740del C. Six reported mutations, including five missense mutations: Cys430Gly, Asp486Asn, Ser283Tyr, Thr163Met, Arg913Gln; one deletion mutation: 2877_2878del AC. Among 10 patients, 8 patients carried Ala264Gly homozygous mutation and 4 patients carried Asp486Asn heterozygous mutation, most of them were compound heterozygous mutation. Conclusion: Nine mutation sites were found in this study, including three new mutation sites.