中文摘要：

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CA457T（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SCN5A H558R、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。

英文摘要：

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.