中文摘要：

目的探讨5-脂氧合酶激活蛋白（ALOX5AP）基因多态性与新疆维吾尔族人群缺血性脑卒中发病的关系。方法选择自2011年10月至2012年10月就诊于新疆地区各三甲医院神经内科并确诊为急性缺血性脑卒中的当地长住维吾尔族患者197例（病例组）与同期体检的健康维吾尔族人群200例（对照组）为研究对象，应用聚合酶链反应-限制性片段长度多态性技术检测ALOX5AP基因SG13S32位点多态性．采用病例-对照设计统计分析基因型分布和等位基因频率的差异。结果ALOX5AP基因SG13S32位点的AC基因型在病例组与对照组间分布差异有统计学意义（P〈0．05），能显著提高缺血性脑卒中的发病风险（OR=5．27，95％CI：2．75-11．73）。病例组男女患者间各基因型分布差异无统计学意义（P〉0．05）。病例组不同TOAST分型中基因型分布差异无统计学意义（P〉0．05）。结论ALOX5AP基因SG13S32位点的AC基因型可增加维吾尔族缺血性脑卒中的发病风险，但与性别、TOAST分型无相关性。

英文摘要：

Objective To investigate the relationship of the 5-1ipoxygenase-activating （ALOX5AP） gene polymorphisms with ischemic stroke in Uygur Xinjiang. Methods One hundred and ninety-seven Uygur patients with ischemic stroke and 200 Uygur healthy controls in Xinjiang were collected in our study from October 2011 to October 2012. The SG13S32 locus polymorphisms of A LOX5A P gene were determined by using PCR-restriction fragment length polymorphism technique. The case-control analysis was used to analyze the genotypes distributions and allele frequencies. Results There were statistical differences in the distributions of AC genotypes of SG13S32 locus in ALOX5AP gene between patient group and control group （P〈0.05） and AC genotypes of SG13S32 locus in ALOX5AP gene significantly increased the risk of ischemic stroke （OR=5.27, 95%CI： 2.75-11.73）. The distributions of all genotypes showed no statistical differences between male and female in the patient group （P〉0.05）. The distributions of all genotypes showed no statistical differences between patients of different TOAST ratio （P〉0.05）. Conclusion The ALOX5AP gene SG13S32 locus polymorphisms are associated with risk of ischemic stroke in Xinjiang Uygur population; risk of ischemic stroke does not associate with gender and TOAST ratio.