目的 研究汉族脑梗死患者人群中阿司匹林抵抗相关基因重要位点单核苷酸多态性（SNPs）的分布频率，并将其分布与在其他人群中的分布进行比较。方法 选取475例汉族脑梗死患者为研究对象，采用荧光染色原位杂交技术检测GPⅢa PLA2 (rs5918)、PEAR1 (rs12041331)和PTGS1 (rs10306114) 3个位点的基因型，统计分析相关位点基因型和等位基因分布频率，并与相关数据库收录的其他人群进行比较。结果 在汉族脑梗死患者人群中GPⅢa PLA2 (rs5918)位点上存在2种基因型，为TT（98.74%）和TC（1.26%），其中T、C等位基因频率分别为99.37%、0.63%；PTGS1 (rs10306114)位点上仅存在1种基因型，即AA（100%）；PEAR1 (rs12041331)位点上GG、GA、AA 3种基因型均存在，分别占42.32%、43.79%、13.89%。结论 在汉族脑梗死患者人群中，阿司匹林抵抗相关的GPⅢa PLA2 (rs5918)和PTGS1 (rs10306114)位点上突变情况极少，均以野生型纯合子为主，而PEAR1 (rs12041331)位点上突变多见。

Objective To investigate the distribution frequency of single nucleotide polymorphisms (SNPs) at important sites of aspirin resistance related genes in the Han population with cerebral infarction, and to compare these polymorphisms with those in other populations. Methods 475 Han patients with cerebral infarction were selected as the study subjects. The genotypes of GPⅢa PLA2 (rs5918), PEAR1 (rs12041331), and PTGS1 (rs10306114) were detected by fluorescence staining in situ hybridization method. The distribution frequencies of genotypes and alleles of related loci were analyzed statistically, and compared with other populations included in the relevant database. Results Two genotypes, TT (98.74%) and TC (1.26%), were found in GPⅢa PLA2 (rs5918) locus in Han patients with cerebral infarction, and the frequencies of T and C alleles were 99.37% and 0.63%, respectively. There was only one genotype at PTGS1 (rs10306114), namely AA (100%). GG, GA, and AA genotypes were present at PEAR1 (rs12041331) locus, accounting for 42.32%, 43.79%, and 13.89%, respectively. Conclusion In the Han population with cerebral infarction, mutations in the GPⅢa PLA2 (rs5918) and PTGS1 (rs10306114) loci associated with aspirin resistance are rare, with wild-type homozygotes predominating, while mutations in the PEAR1 (rs12041331) locus are common.

R971

首都临床特色应用研究项目（Z181100001718144）；北京市通州区科技计划基金资助项目（KJ2017CX036-06）