青壮年猝死综合征家系及散发病例SCN5A基因突变的检测  

The screening of SCN5A mutations in sudden unexpected nocturnal death syndrome in Chinese Han nationality population

作　　者：周峰[1,2] 利焕祥 张晋湘[1] 唐双柏[1] 卢次勇[3] 成建定[1] 

机构地区：[1]中山大学中山医学院法医学系,广东广州510080 [2]东莞市公安局,广东东莞523008 [3]中山大学公共卫生学院流行病学教研室,广东广州510080

出　　处：《国际内科学杂志》2009年第1期1-4,共4页International Journal of Internal Medicine

基　　金：国家自然科学基金项目(30500581);广东省自然科学基金项目(05001685)

摘　　要：目的研究中国人青壮年猝死综合征(SUNDS)病例是否存在SCN5A基因突变。方法应用直接测序技术对74例散发病例及两个家系病例的4个成员的血纱样本进行SCN5A基因突变的检测。结果在散发病例发现突变位点R1512W、A1121A,其中A1121A为新发现的突变。结论中国人SUNDS病例存在SCN5A基因突变,后者可能与部分SUNDS的发生相关。Objective To investigate if there is SCNSA gene mutation in sudden unexplained nocturnal death syndrome（SUNDS） cases in Chinese Han nationality population. Methods Seventy-four sporadic SUNDS cases and 4 members in 2 families with SUNDS family history were enrolled. Genomic DNA was extracted from blood samples. SCNSA mutation was detected by polymerase chain reaction and direct sequencing. Results Two mutations of R1512W and A1121A in SCN5A gene were detected in sporadic cases while A1121A was a novel one. Conclusion There is SCNSA gene mutations found in Chinese SUNDS cases. SCN5A gene mutation may be correlated with the occurrence of part of SUNDS cases in China.

关 键 词：青壮年猝死综合征 Na^+通道 SCN5A基因 突变 

分 类 号：R541[医药卫生—心血管疾病]