花生四烯酸5-脂氧合酶激活蛋白基因多态性与心肌梗死关系的研究

Relationship of T(8733)C polymorphism of arachidonate 5-lipoxygenase-activating protein gene with myocardial infarction

目的探讨在中国北方汉族人群中花生四烯酸5-脂氧合酶激活蛋白(ALOX5AP)基因单核苷酸多态性T(8733)C与心肌梗死的关系。方法采用PCR-重测序法对随机选取的无亲缘关系的48例中国北方汉族个体进行ALOX5AP基因单核苷酸多态性筛查,对经冠状动脉造影证实的125例心肌梗死患者和158例正常对照者,采用聚合酶链反应?限制性片段长度多态性(PCR-RFLP)方法检测ALOX5AP基因T(8733)C多态性基因型和等位基因分布情况。结果通过筛查发现7个多态。心肌梗死患者ALOX5AP基因T(8733)C3种基因型(TT型、TC型和CC型)及C等位基因分布频率分别为35.2%、48.8%、16.0%和40.4%,正常对照者分别为32.9%、50.0%、17.1%和42.1%,其差异均无统计学意义(P>0.05);按性别分层进行亚组分析,心肌梗死患者与正常对照者ALOX5AP T(8733)C多态的基因型和等位基因频率差异亦均无统计学意义。结论ALOX5AP基因T(8733)C多态性与中国北方汉族人群心肌梗死的发生可能无关。

Objective To investigate the relationship of the arachidonate 5-lipoxygenase-activating protein （ALOXSAP） gene with myocardial infarction（MI） in northern Han Chinese. Methods The promoter,all of the exons, splite site region and 3untranslated region of ALOXSAP gene were sequenced in 48 subjects,and then the site T（8733） C was determined by polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP） analysis in 125 MI patients and 158 control subjects without MI. Results Seven single nucleotide polymorphisms（SNPs） were found through SNP screening. There were three kinds of genotypes in the ALOXSAP T（8733）C polymorphism： TT, TC,CC. The frequencies of the genotypes TT, TC, CC and allele C in MI group were 35.2%, 48.8%, 16.0% and 40.4 %, respectively, those of control group 32.9 %, 50.0%, 17.1 % and 42.1 %, respectively. No statistical significance was found in the genotype frequencies and allele frequencies between the two groups（ P 〉0.05）. Nor was the stratified analysis by gender. Conclusion The result suggests that T（8733）C polymorphism of the ALOX5AP gene might not be associated with MI in northern Han Chinese.