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...