【摘要】 目的:探讨血浆脂蛋白(a)[Lp(a)]及载脂蛋白(a)[Apo(a)]结构基因(APOA)5’调控区PNR基因多态性与颅内动脉瘤发病的相关性。方法:选择经颅脑CTA、DSA及手术证实为颅内动脉瘤的45例患者和健康对照组45例,测定其血浆Lp(a)的浓度;同时采集其血浆,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)结合非变性聚丙烯酰胺凝胶电泳(PAGE)等方法,检测载脂蛋白(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]基因多态性。结果:动脉瘤组Lp(a)平均浓度为(50.2±14.3)mg/dl,健康对照组为(14.9±7.6)mg/dl(P<0.001);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,动脉瘤组PNR-5等位基因频率和PNR5/8基因型频率显著高于健康对照组;且重复序列为5的等位基因还与血浆Lp(a)升高相关(P<0.05)。结论:血浆Lp(a)浓度与颅内动脉瘤发病有显著相关性;ApoaPNR(TTTTA)拷贝数为5的等位基因可能与颅内动脉瘤发生呈正相关。更多还原

【Abstract】 Objective:To study the correlation between Lipoproteins(a) level and pentanucleotide repeats(PNR),polymorphism in the 5’ untranslated region of the apolipoprotein(a) gene and intracranial aneurysms.Method:The cases were divided into 2 groups:45 patients with intracranial aneurysms and 45 healthy controls.The Lp(a) levels were measured and compared.The PNR polymorphism of the apolipoprotein(a) gene were detected by using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) combining with non-denatured polyacrylamide gels electropherosis(PAGE).Result:Plasma Lp(a) leval in the patients was(50.2±14.3)mg/dl,while that in the control subjects was (14.9±7.6)mg/dl(P<0.001).8 kinds of PNR gene types and 5 kinds of alleles were detected.There was one site of sequence variance in the 5’control region of APOA gene,which was significantly different between the patients and controls.The allele frequency with 5 repeats was associated with high Lp(a) levels(P<0.05).Conclusion:Lp(a) is an independent risk factor for genesis of intracranial naeurysms.Correlation may exist between the polymorphisms in the 5’ control region of the apolipoprotein(a) gene and the etiology and pathogenesis of intracranial aneurysms.更多还原