胰岛素受体基因多态性与缺血性脑血管病的关系

目的 探讨胰岛素受体（IR）基因突变在缺血性脑血管病发病中的作用。方法 以PCR－单链构像多态性（PCR－SSCP）法对68例动脉粥样硬化性血栓性脑梗死（ACI）患者、81例腔隙性脑梗死（LI）患者及62名健康对照者（HC）检测IR基因第17和20外子碱基变异情况。结果 IR基因第17外显子存在C、T两种等位基因，ACI患者突变型T等位基因频率显著高于对照者，且突变型患者血压及血糖、血脂代谢指标均显著高于野生型对照者，但相关分析显示IR基因多态性与血压变化无关；第20外子未发现有碱基变异。结论 IR基因第17外显子突变可能通过促动脉粥样硬化而参与缺血性卒中发病。

Relationship between insulin-receptor gene polymorphism and ischemic cerebral vascular disease

Objective To investigate the role of mutation of insulin receptor(IR) gene on the development of ischemic cerebral vascular disease.Methods The base variations at exon 17 and 20 of IR gene, by means of PCR SSCP were determined in the 68 cases of atherothrombotic cerebral infarction (ACI), 81 cases of lacunar infarction (LI) and 62 healthy controls.Results There were two alleles of T and C at exon 17 of IR gene. The prevalence of mutant of T allele in ACI patients was more common than that in the controls. The blood pressure and the parameters of blood sugar,lipid metabolism in the patients with mutant were higher than those in the controls with wild type gene. The correlative analysis showed the polymorphism of IR gene was not related statistically to the blood pressure. No base variation at exon 20 was found in the study.Conclusion By promoting the development of atherosclerosis,the mutation at exon 17 of IR gene may participate in the occurrence of ischemic stroke.