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目的探讨TBX5基因上的rs1895585,rs78441425和rs55646156单核苷酸多态性位点与单纯性先天性心脏病易感性的相关性。方法收集112例单纯性先天性心脏病患者及112例正常患者的外周血标本,提取基因组DNA,在Hap Map数据库中选出TBX5基因的标签SNP,运用Illumina Bead Xpress Reader对TBX5基因的标签SNP进行基因分型。结果将病例组与对照组进行关联分析发现,TBX5基因上的rs1895585,rs78441425和rs55646156三个位点在两者之间存在显著性差异。结论本研究发现TBX5基因上的rs1895585,rs78441425和rs55646156三个位点可能与单纯性先天性心脏病发病风险之间存在相关性。
Objective To investigate the association between rs1895585, rs78441425 and rs55646156 single nucleotide polymorphisms in TBX5 gene and susceptibility to simple congenital heart disease. Methods Peripheral blood samples of 112 patients with simple congenital heart disease and 112 normal controls were collected and genomic DNA was extracted. The tag SNP of TBX5 gene was selected in Hap Map database. The tag SNP of TBX5 gene was detected by Illumina Bead Xpress Reader Genotyping. Results The association between the case group and the control group showed that the three loci of rs1895585, rs78441425 and rs55646156 in TBX5 gene were significantly different between the two groups. Conclusion This study found that TBX5 gene rs1895585, rs78441425 and rs55646156 three sites may be associated with the risk of simple congenital heart disease there is a correlation.