目的 研究漢族腦梗死患者人群中阿司匹林抵抗相關(guān)基因重要位點(diǎn)單核苷酸多態(tài)性（SNPs）的分布頻率，并將其分布與在其他人群中的分布進(jìn)行比較。方法 選取475例漢族腦梗死患者為研究對(duì)象，采用熒光染色原位雜交技術(shù)檢測(cè)GPⅢa PLA2 (rs5918)、PEAR1 (rs12041331)和PTGS1 (rs10306114) 3個(gè)位點(diǎn)的基因型，統(tǒng)計(jì)分析相關(guān)位點(diǎn)基因型和等位基因分布頻率，并與相關(guān)數(shù)據(jù)庫收錄的其他人群進(jìn)行比較。結(jié)果 在漢族腦梗死患者人群中GPⅢa PLA2 (rs5918)位點(diǎn)上存在2種基因型，為TT（98.74%）和TC（1.26%），其中T、C等位基因頻率分別為99.37%、0.63%；PTGS1 (rs10306114)位點(diǎn)上僅存在1種基因型，即AA（100%）；PEAR1 (rs12041331)位點(diǎn)上GG、GA、AA 3種基因型均存在，分別占42.32%、43.79%、13.89%。結(jié)論 在漢族腦梗死患者人群中，阿司匹林抵抗相關(guān)的GPⅢa PLA2 (rs5918)和PTGS1 (rs10306114)位點(diǎn)上突變情況極少，均以野生型純合子為主，而PEAR1 (rs12041331)位點(diǎn)上突變多見。

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

首都臨床特色應(yīng)用研究項(xiàng)目（Z181100001718144）；北京市通州區(qū)科技計(jì)劃基金資助項(xiàng)目（KJ2017CX036-06）