对氧磷酶1基因多态性与海南汉族动脉粥样硬化性脑梗死的相关性研究  

Association Between Paraoxonase 1 Gene Polymorphism and Atherosclerotic Cerebral Infarction in Hainan Han Population

作　　者：李志路 李洪海 杜莹婧 李赛嘉 许冰心 易国辉 张云霞 Li Zhilu;Li Honghai;Du Yingjing;Li Saijia;Xu Bingxin;Yi Guohui;Zhang Yunxia(The First Affiliated Hospital of Hainan Medical University,Haikou 570105,China;Science Laboratory Center of Hainan Medical University,Haikou 570105,China;Hainan Provincial Key Laboratory of Trauma and Disaster Relief,Haikou 570105,China)

机构地区：[1]海南医学院第一临床学院,海口570105 [2]海南医学院科学实验中心,海口570105 [3]海南省创伤与灾难救援研究重点实验室,海口570105

出　　处：《成都医学院学报》2021年第3期288-292,共5页Journal of Chengdu Medical College

基　　金：国家级大学生创新创业项目(No:202011810003)。

摘　　要：目的研究对氧磷酶1基因(PON1)遗传多态性与海南汉族动脉粥样硬化性脑梗死(ASCI)的关联性,为脑梗死预警体系及分子诊断提供参考依据。方法选取2019年3—12月海南医学院第一附属医院收治的单纯性汉族ASCI患者作为试验组(n=142例),另选择同期在本院体格检查科体检的196例汉族健康人群作为对照组(n=196例)。采集外周血提取全基因组DNA,采用Snapshot技术对PON1基因上3个单核苷酸多态性(SNP)位点rs2074354、rs3917538和rs854565进行基因分型,并运用SNPstats软件进行Hardy-Weinberg遗传平衡验证,然后采用SPSS 25.0对基因型、等位基因、单倍型分布频率的组间差异性进行分析。结果PON1基因3个多态性位点均可检测出AA、AG、GG 3种基因型及A、G两种等位基因。两组在3个SNP位点基因型、等位基因、单倍型方面比较,差异无统计学意义(P>0.05)。结论PON1基因3个多态性位点rs2074354、rs3917538、rs854565的遗传多态性与海南地区汉族ASCI相关性不强。Objective To study the association between the genetic polymorphism of paraoxonase 1(PON1)gene and atherosclerotic cerebral infarction(ASCI)in Hainan Han population,so as to provide reference for early warning system and molecular diagnosis of cerebral infarction.Methods Simple ASCI patients of Han nationality admitted to the First Affiliated Hospital of Hainan Medical University from March to December 2019 were selected as the experimental group(n=142),while healthy Han people undergoing physical examination in the hospital in the same period were selected as the control group(n=196).The whole genome DNA was extracted from peripheral blood.Three single nucleotide polymorphism(SNP)loci,namely,rs2074354,rs3917538 and rs854565,in PON1 gene were genotyped by Snapshot technique.Hardy-Weinberg genetic balance was verified by SNPstats software.Then SPSS25.0 was used to analyze the differences in the distribution frequency of genotype,allele and haplotype between the two groups.Results Three genotypes(AA,AG and GG)and two alleles(A and G)were detected in three polymorphic loci of PON1 gene(rs2074354,rs3917538,and rs854565).There was no significant difference in genotype,allele and haplotype of the three SNP loci between the two groups(P>0.05).Conclusion The genetic polymorphisms of the three polymorphic loci of PON1 gene,namely,rs2074354,rs3917538 and rs854565,were not strongly correlated with ASCI in Hainan Han population.

关 键 词：对氧磷脂酶1 动脉粥样硬化性脑梗死 基因多态性 海南汉族 遗传多态性 

分 类 号：R394.3[医药卫生—医学遗传学]