TBX5基因多态性与单纯性先天性心脏病易感性的关联分析  

Single nucleotide polymorphism of TBX5 gene with sporadic congenital heart disease in Chinese Han population

作　　者：谭赛男[1,2] 孟凡琦 伍源 吴嵩龄 周舒香[2] 倪斌 

机构地区：[1]湖南省计划生育研究所现代优生技术湖南省重点实验室,长沙410126 [2]株洲市妇幼保健院,湖南株洲412000 [3]厦门大学附属心血管病医院,福建厦门361003

出　　处：《中国优生与遗传杂志》2017年第11期109-110,共2页Chinese Journal of Birth Health & Heredity

基　　金：湖南省卫生计生委科研计划课题项目(编号:B2017144)

摘　　要：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：Single nucleotide polymorphism（SNP）scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to sporadic CHD in the Chinese Han people. Methods：One hundred and twelve paediatric patients with sporadic CHD and 112 matched healthy control subjects were studied using Bead Xpress？ Reader（illumina）. Results：Statistical analyses showed that the rs1895585,rs78441425 and rs55646156 variants in TBX5 gene were obviously associated with the risk of sporadic CHD. Conclusions：The SNP rs1895585,rs78441425 and rs55646156 in TBX5 gene is associated with CHD in Chinese Han populations.

关 键 词：TBX5基因多态性 单纯性先天性心脏病 

分 类 号：R541.1[医药卫生—心血管疾病]