中文摘要：

目的 探讨细胞粘附分子-1（ICAM-1）基因K469E位点在新疆哈萨克族人群中的分布以及与不同类型脑梗死的相关性。方法 采用聚合酶链反应-限制性片段长度多态性（PCR-RELP）,对新疆哈萨克族180例不同类型脑梗死患者（脑梗死组）及180例健康者（对照组）进行ICAM-1基因K469E位点多态性分析。结果 ICAM-1基因K469E位点K等位基因在脑梗死组及对照组间有统计学差异（χ^2=8.455,P=0.004）,KK基因型在脑梗死组及对照组间有统计学差异（χ^2=15.50,P=0.000）,大动脉粥样硬化（LAA）型脑梗死基因型频率KK 0.632、KE 0.250、EE 0.118,小动脉闭塞（SAO）型脑梗死基因型频率KK 0.683、KE 0.192、EE 0.125,两组相同基因型之间比较差异无统计学意义（χ^2=0.864,P=0.649）,LAA组K等位基因频率0.757,E等位基因频率0.243,SAO组K等位基因频率0.779,E等位基因频率0.221,两组间比较无统计学差异（χ^2=0.245,P=0.620）。结论 ICAM-1基因K469E位点多态性与新疆哈萨克族脑梗死相关,K等位基因可能是新疆哈萨克族脑梗死患者易感基因。

英文摘要：

Objective To explore the distribution of intercellular adhesion molecule-1 （ICAM-1） K469E gene among Kazak people in Xinjiang and its correlation with different types of cerebral infarction. Methods Polymerase chain reaction and restriction fragment length polymorphism methods were used to analyze the polymorphism of ICAM-1 gene K469E from 180 Xinjiang Kazak patients with different types of cerebral infarction （cerebral infarction group） and 180 healthy people （control group）. Results The frequencies of K allele of ICAM-1 gene K469E in cerebral infarction group were significantly different from those in control group （χ^2=8.455, P=0.004）. The frequencies of KK genotype in cerebral infarction group were significantly different from those in control group （χ^2=15.50, P=0.000）. Large artery atherosclerosis （LAA） type cerebral infarction genotype frequency was KK 0.632, KE 0.250, and EE 0.118. Small artery occlusion （SAO） type cerebral infarction genotype frequency was KK 0.683, KE 0.192, and EE 0.125. The two groups with the same genotypes showed no significant difference （χ^2=0.864, P=0.649）. In LAA group, K allele frequency was 0.757 and E allele frequency 0.243; in SAO Group, K allele frequency was 0.779 and E allele frequency 0.221. The two groups revealed no obvious difference （χ^2=0.245, P=0.620）. Conclusion The polymorphism of ICAM-1 gene K469E is associated with cerebral infarction in Kazaks people in Xinjiang. Its K allele may be the genetic susceptibility gene for cerebral infarction in Kazaks people in Xinjiang.