新疆维吾尔族、汉族载脂蛋白E基因及尿激酶型纤溶酶原激活因子基因多态性与Alzhemier病的关系  

Relationship between the polymorphisms of apolipoprotein E gene and plasminogen activator urokinase gene and Alzheimer disease in Uygurs and Hans in Xinjiang

作　　者：周晓辉[1] 邹婷[1] 骆晓梅[2] 

机构地区：[1]新疆医科大学第一附属医院干部病房内一科,乌鲁木齐830054 [2]新疆医科大学第五附属医院心内科

出　　处：《临床神经病学杂志》2012年第6期418-421,共4页Journal of Clinical Neurology

摘　　要：目的探讨新疆维吾尔族(维族)、汉族载脂蛋白E(ApoE)基因及尿激酶型纤溶酶原激活因子(PLAU)基因多态性与Alzheimer's病(AD)的关系。方法应用PCR-限制性片段长度多态性(RFLP)方法,检测209例很可能AD患者(AD组,汉族98例,维族111例)及220名正常对照者(NC组,汉族103人,维族117人)的ApoE基因及PLAU基因第6号外显子r2227564s基因型及等位基因频率。结果 AD组中,维族、汉族ApoEε3/4基因型及ε4等位基因频率明显高于NC组;其与PLAU基因C/T基因型组合的频率明显高于NC组(均P<0.05);具有ApoEε3/3基因型的维族T/T基因型频率明显高于NC组(P<0.05)。结论 ApoE基因多态性可能与AD相关;PLAU C/T基因型可能增加具有ApoEε3/4基因型及ε4等位基因者AD的发病风险;PLAU T/T基因型可能增加具有ApoEε3/3基因型、ε3等位基因的维族AD的发病风险。Objective To investigate the relationship between the polymorphisms of apolipoprotein E（ApoE） gene and plasminogen activator urokinase（PLAU） gene and Alzheimer disease（AD） in Hans and Uygurs in Xinjiang.Method The frequencies of genotype and allele of ApoE and PLAU gene the 6th exon（r2227564s）were detected by PCR-restrction fragment length polymorphism（RFLP） in 209 patients with probably AD（AD group,98 Hans,111 Uygurs） and 220 normal controls（NC group,103 Hans,117 Uygurs）.Results In AD group,the frequencies of ApoE ε3/4 genotype and ε4 allele and which conbined with PLAU C/T genotype in Hans and Uygurs were significantly higher than NC group（allP0.05）.In the Uygur AD patients,the frequence of ApoE ε3/3 combined with PLAU T/T genotype was significantly higher than NC group（P0.05）.Conclusions ApoE gene polymorphism maybe related to AD.The PLAU C/T genotype maybe increased the AD risk in people with ApoEε3/4 genotype and ε4 allele.The PLAU T/T genotype maybe increased the AD risk in Uygurs with ApoE ε3/3 genotype and ε3 allele.

关 键 词：Alzhemier病 载脂蛋白E基因 尿激酶型纤溶酶原激活因子基因 维吾尔族 汉族 

分 类 号：R749.16[医药卫生—神经病学与精神病学]