磷酸二酯酶基因和5-脂氧合酶激活蛋白基因多态性与脑梗死的关联性研究

Study on the correlation between cerebral infarction (CI) and the gene polymorphism with Phosphodiesterase (PDE4D) and 5-lipoxygenase activating protein (ALOX5AP)

目的研究磷酸二酯酶基因(PDE4D)和5-脂氧合酶激活蛋白基因(ALOX5AP)多态性与脑梗死(CI)的关联性。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)检测PDE4D基因SNP83/SNP87位点和基因ALOX5AP的SG13S100/SG13S114位点的基因多态性,结合问卷调查结果分析基因多态性与CI的相关性。结果 CI发病流行因素包括高年龄、高血压、高胆固醇血症和心房颤动,287例CI组与300名对照组中PDE4D基因SNP83位点的C/T分布、ALOX5AP基因的SG13S100位点的A/G分布、SG13S114位点的T/A分布差异均具有统计学意义(P<0.05),SNP87C/T分布差异无统计学意义。结论 CI分布的遗传危险因素包括SNP83C/T、SG13S100A/G、SG13S114T/A三种基因位点多态性的变化。

Abstract Objective To study the correlation between cerebral infarction （CI） and the gene poly- morphism with phosphodiesterase（PDE4D） and 5-1ipoxygenase activating protein（ALOX5AP）. Meth- ods It was analyzed the genetic loci as SNP83/SNP87 in PDE4D gene and SG13S100/SG13Sll4 gene by Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）testing. Accord- ing to Questionnaire results, study the relationship between CI and gene polymorphism. Results The CI risk factors included oider age, hypertension, hypercholesterolemia, and atrial fibrillation. There were statistical significantly differences between 287 CI patient group and 300 case control group in that dis- tributed C/T at SNP83 site on PDE4D gene; distributed A/G at SG13S100 site and T/A at SG13Sl14 on ALOX5AP gene, but no difference in T/A distribution at SNP87 site on that gene（P〈0.05）, m, including SNP83C/T, SG13S100 A/G, SG13Sl14 T/A. Conclusion Heredity high risk of CI distribu- tion are include three gene site polymorphism changes of NP83C/T, SG13S100 A/G, SG13Sl14 T/A