急性心肌梗死患者血小板反应素1单核苷酸多态性  

A Preliminary Study of Single Nucleotide Polymorphisms of Thrombospondin-1 Gene in Acute Myocardial Infarction

作　　者：戴健[1] 杨志健[1] 马继政[2] 杨笛[1] 张寄南[1] 

机构地区：[1]南京医科大学附属第一医院心血管病研究所 [2]南京医科大学药理学教研室,江苏省南京市210029

出　　处：《中国动脉硬化杂志》2006年第5期422-425,共4页Chinese Journal of Arteriosclerosis

基　　金：江苏省135重点实验室(SK200205);江苏省高新技术研究(BG2003033)诊断心肌疾病的生物芯片研究与应用

摘　　要：目的探讨血小板反应素1基因第13外显子单核苷酸多态性致血小板反应素1蛋白第700位氨基酸丝氨酸转换为天冬氨酸与中国汉人急性心肌梗死的相关性。方法应用聚合酶链反应—限制性片断长度多态性技术筛查了汉族172例急性心肌梗死患者和270例对照者血小板反应素1基因第13外显子钙结合活性片段8831A→G,对筛查到含有突变的片段进行序列测定,并与正常序列进行对照分析,探讨两者之间的关系。结果血小板反应素1基因8831A→G不是中国汉人急性心肌梗死发生的独立危险因素(GA比AA:相对危险度为3.19,95%可信区间为0.578～17.61,P=0.160)。结论血小板反应素1基因8831A→G在汉人中发生频率低,与汉人急性心肌梗死发生无相关性,补充了血小板反应素1基因单核苷酸多态性的数据库信息。Aim To inquire into the relationship between single nucleotide polymorphisms （SNP） of thrombospondin-1 gene （TSP- 1） and acute myocardial infarction （ AMI ）. Methods Fragment of Exon thirteen in TSP-1 gene from 172 cases of AMI and 270 subjects without coronary heart disease were analysed by polymerase chain reaction and restriction fragment length polymorphism, and sequence analysis for confirmation. Results Of the 442 subjects participating in the study, only 6 of the heterozygotes and none of the homozygotes were detected for the 700S allele. No association of the N700S polymorphism with an ahered risk of AMI was found in our study （ GAvs AA： OR = 3.19, 95%CI 0.578 - 17.61, P = 0. 160）. Conclusion Our study suggested that the TSP-1 N700S polymorphism was rare and unrelated to AMI in the Chinese Han population. This study accumulated additional data on SNP in TSP-1 gene.

关 键 词：病理学与病理生理学 急性心肌梗死 血小板反应素1 基因突变 单核苷酸多态性 冠心病 

分 类 号：R363[医药卫生—病理学]