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目的探讨血小板反应素-1(TSP-1)基因第13外显子单核苷酸多态性(SNPs),致TSP-1蛋白第700位氨基酸、丝氨酸转换为天冬氨酸(700N→S)与中国汉族人急性冠脉综合征(ACS)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(PCR-RFLP),筛查了南京医科大学第一附属医院2003-11～2005-09的323例汉族ACS患者和273名对照组TSP-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。结果对照组TSP-1基因8831A→G变异频数明显低于西方人,与西方人群比较差异有显著性(0.4%对11%,P<0.001);TSP-1基因8831A→G不是中国汉人ACS发生的独立危险因素(GA对AA∶OR=1.699,95%CI为0.309～9.348,P=0.538)。结论TSP-1基因8831A→G在中国汉人中发生频率低,与汉族人ACS发生无相关性,补充了TSP-1基因SNPs的中国汉人数据库信息。
Objective To investigate the single nucleotide polymorphisms (SNPs) of thirteenth exon of thrombospondin-1 (TSP-1) gene and to generate amino acid 700th of TSP-1 and serine to aspartic acid (700N → S ) And Chinese Han people with acute coronary syndrome (ACS). Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to screen 323 cases of Han ACS patients and 273 control subjects in the First Affiliated Hospital of Nanjing Medical University from 2003 to 2005-09 -1 gene exon 13 calcium binding activity fragment 8831A → G, the screening of the fragments containing mutations were sequenced and compared with the normal sequence control. Results The frequency of 8831A → G mutation of TSP-1 gene in control group was significantly lower than that in western people (0.4% vs. 11%, P <0.001). The TSP-1 gene 8831A → G was not found in Chinese Hans (GA vs. AA: OR = 1.699, 95% CI 0.309 to 9.348, P = 0.538). Conclusions The frequency of 8831A → G in TSP-1 gene is low in Han Chinese, but not related to ACS in Han nationality. The Chinese TSP-1 gene SNPs was supplemented by Chinese Han database.