中国汉族人群SCN5A基因H558R、P1090L、4299+53T>C及D1819D的多态性研究  

Studies on single nucleotide polymorphisms of SCN5A gene

作　　者：谭琛[1] 浦介麟[2] 曾治宇[2] 王方正[2] 滕思勇[2] 陈剑虹[3] 宿少勇[3] 周晓阳[3] 张澍[2] 顾东风 

机构地区：[1]北京军区总医院心肺血管病中心,北京100700 [2]阜外心血管病医院心律失常诊治中心 [3]阜外心血管病医院群体遗传学及防治研究室 [4]国家人类基因研究组北方中心

出　　处：《解放军医学杂志》2006年第8期762-763,共2页Medical Journal of Chinese People's Liberation Army

基　　金：国家自然科学基金资助项目(30270556)

摘　　要：目的了解中国汉族人群SCN5A基因单核苷酸多态性少见等位基因频率分布情况。方法在社区体检人群中选择126例作为研究对象,采用限制性片段长度多态性分析(RFLP)对SCN5A基因的H558R、P1090L、4299+53T>C及C5457T(D1819D)多态位点进行基因型鉴定,并随机选取样本采用ABI3700毛细血管电泳进行序列测定验证酶切结果。结果SCN5AH558R、P1090L、4299+53T>C及C5457T(D1819D)在中国汉族人群中的少见等位基因频率分别为11·1%、5·2%、28·2%及31·8%,与日本及国人先前的研究结果不尽相同。结论SCN5A基因的单核苷酸多态性存在种族差异。Objective To investigate the distribution of SCN5A gene polymorphisms in Chinese Han population. Methods 126 subjects were recruited from individuals participating in a community-based survey in Beijing Shijingshan district. Four SNPs of SCNSA gene H558R, P1090L, 4299＋53T〉C and C 5457T （D1819D） were genotyped by restriction fragment length polymorphism （RFLP） in all subjects. Results In Chinese Han population, minor allele frequencies of H558R, P1090L, 4299＋53T〉C and C 5457T （D1819D） were 11.1%, 5. 2%, 28. 2% and 31.8%, respectively. The minor allele frequency of SNPs was not same as study from Japanese or Chinese. Conclusion The distribution of SCN5A SNPs may vary between different ethnicities.

关 键 词：多态性 单核苷酸 心律失常 SCN5A 基因 

分 类 号：R541.702.6[医药卫生—心血管疾病]