E选择素基因多态性与新疆哈萨克族患者脑梗死的关系

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-se-lectin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。

Relationship between Polymorphisms of E-selectin Gene and Kazak Patients with Cerebral Infarction in Xinjiang

Objective：To study the relationship between polymorphisms of E-selectin gene and cebreral infarction（CI） in Xin-jiang 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.