中国新疆地区汉族、维族健康儿童SCN5A基因单核苷酸多态性及其与先天性心脏病的关系

SCN5A gene single nucleotide polymorphisms and its relationship with congenital heart disease in Han and Uygur healthy children in Xinjiang region of China

目的主要对钠离子通道基因(SCN5A基因)A29A和D1819D多态性与中国新疆地区汉族、哈萨克族、维吾尔族先天性心脏病(简称先心病)发病的相关性进行分析。方法健康儿童(健康组)350例(维吾尔族145例,汉族110例,哈萨克族95例),先心病儿童(先心病组)350例(维吾尔族145例,汉族110例,哈萨克族95例),进行聚合酶链反应扩增SCN5A基因所有外显子序列,对其产物进行核酸序列检测,对检测到的位点进行统计学分析。结果新疆地区儿童中发现9个单核苷酸多态位点(SNPs),通过对多态位点A29A和D1819D进行统计分析,汉族、哈萨克族、维吾尔族健康儿童中A29A和D1819D的基因型频率和等位基因频率差异有统计学意义(P<0.05),汉族、哈萨克族基因型频率和等位基因频率差异无统计学意义(P>0.05)。A29A和D1819D的等位基因频率和基因型频率在汉族、维吾尔族先心病组和健康组中分布均有统计学意义(P<0.05),A29A等位基因频率和基因型频率在哈萨克族先心病组和健康组中分布均无统计学意义(P>0.05),D1819D基因型频率也无统计学意义(P>0.05),但等位基因频率有统计学意义(P<0.05)。结论 SCN5A基因A29A、D1819D位点在新疆汉、维吾尔族先心病人群中存在多态性,D1819D可能在哈萨克族先心病人群中存在多态性,SCN5A基因可能是新疆地区先心病发病的易感基因。

Objective To study the correlation analysis of A29A and D1819D polymorphism of SCN5A gene in Han, Kazak, Uygur nationalities in Xinjiang region of China and their relationship with congenital heart disease(CHD) incidence. Methods A total of 350 normal healthy children(healthy group: 145 of Uygur, 110 of Han, and 95 of Kazakh) and 350 CHD patients(CHD group: 145 of Uygur, 110 of Han, 95 of Kazakh) were enrolled. Polymerase chain reaction was used to amplify SCN5A gene exon sequences. The nucleic acid sequence was detected for the products, and genotype frequency and allele frequency distribution about two sites was analyzed. Results Nine single nucleotide polymorphic loci(SNPs) were found in Xinjiang children. A292A and D1819D of polymorphic loci were performed statistical analysis. Significant differences were found between Han and Uygur healthy children in the gene type and allele frequencies of A29A and D1819D(P < 0.05), and there were no significant differences in the genotype and allele frequencies between Han and Kazak(P > 0.05). The A29A and D1819D allele and genotype frequencies distribution were significantly different between Han and Uygur in CHD group and healthy group(P < 0.05). Allele and genotype frequencies in the Kazakh CHD and healthy groups were not statistically significant(P > 0.05). No statistical difference was found in D1819D allele frequency distribution between Kazakh CHD group and healthy group(P > 0.05); However, the allele frequency was statistically significant(P < 0.05). Conclusion SCN5A gene A29A and D1819D sites have polymorphisms in Han and Uygur population in Xinjiang diagnosed of CHD. D1819D may have polymorphism in the Kazak population of CHD. SCN5A gene may be a susceptibility gene for CHD in Xinjiang region.