一例Gitelman综合征家系的 SLC12A3基因变异分析
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2020)
Abstract
目的:检测1个中国汉族Gitelman综合征(Gitelman syndrome,GS)
SLC12A3基因的变异位点。
方法:收集家系成员的临床资料和血样,应用PCR扩增结合Sanger测序法家系,分别对家系中先证者
SLC12A3基因的外显子进行变异分析,确定疑似致病变异后,对其他家系成员进行相应位点的验证。
结果:Sanger测序结果显示先证者
SLC12A3基因存在第3外显子c.486_489del TACG(p.Ile162Met fs*8)和第25外显子c.2890C>T(p.Arg964Trp)复合杂合变异。检索文献发现,两种变异均为未报道过的新变异,100名健康对照均未发现上述变异。
结论:SLC12A3基因c.486_489del TACG(p.Ile162Met fs*8)和c.2890C>T(p.Arg964Trp)变异可能分别是为GS家系的疑似致病变异。
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Key words
Gitelman syndrome,SLC12A3 gene,Autosomal recessive inheritance,Gene variant
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