汉族人endoglin基因多态性与颅内动脉瘤发病的关系  

Study of the Relationship between the Polymorphism of the Endoglin Gene and Intracranial Aneurysm in Han Nationality

作　　者：王江飞[1] 张东[1] 赵继宗[1] 陈保生[2] 曾武威[2] 李国平[2] 毕楠[2] 

机构地区：[1]首都医科大学附属北京天坛医院神经外科 [2]中国医学科学院基础医学研究所医学分子生物学国家重点实验室

出　　处：《首都医科大学学报》2006年第1期95-99,共5页Journal of Capital Medical University

基　　金：国家自然科学基金(编号:30200290)资助项目

摘　　要：目的研究汉族人中endoglin基因第7内含子的插入多态性与颅内动脉瘤发病率的关系。方法利用聚合酶链式反应(PCR),琼脂糖凝胶电泳检测PCR产物,聚丙烯酰胺凝胶电泳(PAGE)及PCR产物直接测序等方法比较94例颅内动脉瘤患者与116例正常对照者endoglin基因第7内含子内插入型基因的构成。结果颅内动脉瘤组与对照组中endoglin基因第7内含子内插入型基因的构成差异有统计学意义,前者(36.2%)明显高于后者(12.1%)(χ2=8.553,P=0.005)。动脉瘤组中插入型基因的等位基因频率为24.5%(46/188),而正常对照组为6.03%(14/232),经χ2检验,二者的差异有统计学意义(χ2=14.409,P=0.000)。结论汉族人的endoglin基因异质性可能与颅内动脉瘤的发生相关。Objective To study the relationship between the polymorphism of the endoglin gene and the incidence of intraeranial aneurysm in the Han nationality. Methods To compare the allele gene and genotype frequency of the .insertion polymorphism around exon 7 of the endoglin gene in 94 patients with intracranial saccular aneurysms and 116 control volunteers by polymerase chain reaction （PCR）, agarose gel electrophoresis, polyacrylamide gel（PAGE） electrophoresis and direct sequencing. Results The insertion genotype frequency of aneurysm group（36.2% ） is much higher than that of the control group（ 12.1% ） （x^2= 8. 553, P = 0. 005）. The insertion allele gene frequency of aneurysm group（24.5 % ） is also higher than that of the control group（ 6.03 % ） （x^2 - 14. 409, P = 0. 000）. Conclusion This insertion polymorphism of endoglin is correlated with the pathogenesis of intracranial aneurysms.

关 键 词：endoglin基因 聚合酶链式反应 基因多态性 颅内动脉瘤 

分 类 号：R739.41[医药卫生—肿瘤]