摘要
目的探讨Apo(a)结构基因(APOA)5′调控区多个基因多态性与颅内动脉瘤发病的关系。方法选择经全脑动脉造影证实为颅内动脉瘤的患者90例和健康对照者96例为研究对象,采集其血浆,提取白细胞基因组DNA,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)结合琼脂糖凝胶电泳(AGE)和非变性聚丙烯酰胺凝胶电泳(PAGE)等方法,检测Apo(a)的结构基因5′调控区-1500位点五核苷酸重复序列的多态性(PNR) [(TTTTA)n]、-914位点G／A、-49位点C／T、-21位点G／A等多态性的基因型和等位基因在中国人群中的分布。结果两组研究对象Apo(a)结构基因的PNR共检测出8种基因型和5种等位基因,两组间差别无显著性意义;两组研究对象的-914位点G／A多态性分布间差别无显著性意义,但组内分析显示-914位点G／A多态性与动脉瘤大小相关;两组研究对象均未发现存在-49位点C／T、-21位点G／A多态性。结论未发现Apo(a)结构基因5′调控区多个基因多态性与颅内动脉瘤发病有相关性;Apo(a)结构基因5′调控区-914G／A等位基因可能与动脉瘤的发展相关,具体机制有待进一步研究;Apo(a)结构基因5′调控区-49C／T、-21G／A的多态性在中国人群中可能并不存在。
Objective To study the relationship between the several polymorpbisms in tbe 5′untranslated region of the apolipoprotein (a) gene and intracranial aneurysms.Methods Objects examined were composed of two groups:90 patients with intracranial aneurysms (IA) by angiography and 96 healthy controls.The polymorphisms in the 5′untranslated region of the apolipoprotein (a) gene were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR- RFLP) combining with agarose gel electrophoresis (AGE) and non-denatured polyacrylamide gels electropherosis (PAGE). Results 8 PNR gene types and 6 alleles were detected in this study,but no significant difference was found between the IA pa- tients and the controls.Also there is no significance in the-914G/A polymorphisms between the IA patients and the controls. While when it came to the diameter of IA,the diference is remarkable.Neither allele-49C or allele-21 A were found in the IA patients or the controls.Conclusion The relationship between the polymorphisms in the 5′control region of the apolipoprotein (a) gene and the etiology and pathogenesis of intracranial aneurysms maybe unremarkable.The-914G/A polymorphism may has some effect on the development of IA.The-49 C/T and-21A/G polymorphism may not be present in Chinese people.
出处
《中国卒中杂志》
2006年第5期332-336,共5页
Chinese Journal of Stroke
