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目的：探讨E 一选择素(E-selectin)基因多态性与新疆哈萨克族患者脑梗死(cebreral infarction，CI)的关系。方法：采用聚合酶链反应一限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism，PCR-RFLP)和DNA 序列测定法检测103 例CI 及110 例对照组E-selectin 基因第4 外显子A561C(S128R)、第10 外显子C1839T（L554F）多态性。结果：E-selectin 基因S128R 基因型频率和等位基因频率在CI 组和对照组比较差异有显著性(P<0.05)，基因型频率的相对风险分析发现，SR 基因型携带者患CI 的风险是SS 基因型的2.355 倍(OR=2.355，95％CI：1. 209～4. 588)；E-selectin L554F 基因型在两组中的分布差异有显著性(X2 = 5.463 , P<0.05) ,基因型频率的相对风险分析, LF 基因型患CI 的风险是LL 基因型的2.315 倍(OR =2.315,95% CI : 1.132～4.737)。结论：E-selectin S128R 和L554F 多态性与脑梗死易感性有关;R 等位基因和F 等位基因可能是新疆哈萨克族 CI 发病的遗传易感基因。

英文摘要:

Objective: To study the relationship between polymorphisms of E-selectin gene and cebreral infarction （CI）in Xinjiang Kazakh Group. Methods: The S128R polymorphism in the exon 4 and The L554F polymorphism in the exon 10 of E-selectin gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)analysis and DNA sequencing among 99 patients with CI of xinjiang Kazakh group and 100 healthy controls. Results: There was significant difference in frequencies of allele and genotype in S128R and L554F polymorphism between CI and control groups respectively. The relative risk suffered from IS of SS geno. type was 2.335 times of the SR genotype (OR=2.335，95％CI：1. 209～4. 588). The relative risk suffered from LF of LL geno. type was 2.315 times of the SR genotype (OR=2.315，95％CI：1.132～4.737). Conclusion: E-se1ectin S128R and L554F polymorphism was associated with IS，R and F allele may be a genetic risk factor of IS among Xinjiang Kazakh Group.

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