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心脏钠离子通道#alpha#亚单位基因单核苷酸多态性及其在汉族人群中的分布

谢旭东, 王兴祥, 陈君柱, 陶明, 尚云鹏, 郭晓刚, 郑良荣

浙江大学医学院第一附属医院心内科暨心血管病研究所.浙江,杭州 310003；中科院北京华大基因研究开发中心.北京 101300

摘要

在中国南方汉族人群中共检测到5个SNPs:3个位于编码区,另2个分别位于3^侧翼区和intron23邻接供体剪接位点的区域。各个SNP在基因中呈不均匀分布,其基因频率分别为G87A(A29A)27.5%,A1673G(H588R)10.4%,4245+82A>G 32.8%,C5457T(D1819D)41.3%和G6174A 44.9%。其中G87A(A29A),G6174A和4245+82A>G为新发现的SNP。A1673G(H588R)的基因频率在中国南方汉族族人群、日本人群和美国人群之间无显著差异(P>0.05)。C5457T(D1819D)在中国南方汉族人群和日本人群中的分布非常接近(P>0.5),但都明显高于美国人群中的分布(均P<0.005)。各SNP在不同性别中的分布无显著差异(均P>0.05)。S1102Y及其余10个国外已经报道的多态位点在该研究中未检测到。各SNP等位基因频率在人群中的分布符合Hardy-Weinberg平衡。结果提示,SCN5A基因SNP具有较大的民族差异。

关键词： 心律失常; SCN5A基因; 单核苷酸多态性; 中国汉族人

Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group

Xie Xudong, Wang Xingxiang, Chen Junzhu, Tao Ming, Shang Yunpeng, Guo Xiaogang, Zheng Liangrong

Department of Cardiovascular,the First Affiliated Hospital,Medical School of Zhejiang University.Hangzhou 310003,Zhejiang；China

Abstract

The results showed that a total of 5 SNPs were identified in SCN5A gene, including three SNPs in code region, one SNP in regulatory region and the other in intron 23 adjacent to donor splicing site. The distribution of the SNPs in SCN5A gene was uneven. These allele frequencies in Han population of South China were as follows: G87A (A29A) 27.5%, A1673G (H588R) 10.4%, 4245+82A>G 32.8%, C5457T (D1819D) 41.3% and G6174A 44.9% respectively. The SNPs G87A (A29A), 4245+82A>G and G6174A were reported for the first time. There was no significant difference in the allele frequency of A1673G (H558R) within different ethical populations (P>0.05). C5457T (D1819D) allele frequency of Han population in South China was similar to that observed in Japanese (P>0.5), but higher than that in American (P<0.005). There was no significant difference in the distribution of the SNPs between male group and female group (all P>0.05). S1102Y and other 10 SNPs identified in other ethnic populations have not been detected in Chinese Han population. The allele distribution of SNPs was in good unity with the Hardy-Weinerg equilibrium. It is suggested that the SNP distribution of SCN5A gene varies within different nationalities. These data will be of use for genetic association studies of acquired arrythmias and investigation of sensitivity to drug therapy.

Key words: arrhythmia;SCN5A gene;single nucieotide polymorphism;Chinese Han nationality

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引用本文：

谢旭东, 王兴祥, 陈君柱, 陶明, 尚云鹏, 郭晓刚, 郑良荣. 心脏钠离子通道#alpha#亚单位基因单核苷酸多态性及其在汉族人群中的分布[J]. 生理学报 2004; 56 (1): .

Xie Xudong, Wang Xingxiang, Chen Junzhu, Tao Ming, Shang Yunpeng, Guo Xiaogang, Zheng Liangrong. Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group. Acta Physiol Sin 2004; 56 (1): (in Chinese with English abstract).