【摘要】 目的 探索SCN5A、SCN1B基因多态性与心房颤动(atrial fibrillation, AF)发生的关系。方法 对中国广西人群105例AF患者血样和105例正常对照样本提取基因组DNA进行测序，确定突变位点并进行Sanger测序及验证，分析各位点基因型和等位基因频率，与PubMed数据库公布的千人基因组计划进行种族比较。结果 共检测到6个多态性位点，其中SCN5A基因rs1805124 AF组等位基因分布与对照组之间差异有统计学意义，并且与全球、非洲、东亚、欧洲、南亚、美洲地区人群分布频率差异有统计学意义(P<0.05)。结论 广西少数民族人群中SCN5A rsrs1805124基因位点存在基因多态性，并与其他种族地区存在基因遗传异质性。更多还原

【Abstract】 Objective To explore the association of SCN5A and SCN1B gene polymorphisms with the occurrence of atrial fibrillation(AF). Methods Genomic DNA was extracted for sequencing from blood samples of 105 AF patients and 105 normal healthy people in Guangxi, China. The mutation sites were identified and they were sequenced and verified by Sanger. The genotypes and allele frequencies of each locus were analyzed. They were compared with the data about other ethnics published in Pubmed on Thousand Genomes Project. Results A total of 6 polymorphic sites were detected, in which the genotype and allele distribution of SCN5A gene rs1805124 had significant difference from that of the control group. And there was significant difference in population distribution frequency, in comparison with global, African, East Asia, European, South Asia and American populations(P<0.05). Conclusion There are gene polymorphisms in the gene loci of SCN5A rs1805124 in Guangxi minority population. There is genetic heterogeneity compared with other ethnic regions.更多还原