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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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Citing This Article：

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).