原发性高胆固醇血症家系成员载脂蛋白B-100基因突变的检测  

Detection of apolipoprotein B-100 gene mutation in patients of primary hypercholesterolemia families.

作　　者：俞锐敏[1] 周羽并[2] 冯建生[2] 蔡启陆[2] 林春兰[2] 

机构地区：[1]暨南大学附属第一医院急诊科,广州510632 [2]暨南大学医学院生化教研室,广州510632

出　　处：《中国实用内科杂志》2008年第10期853-854,857,共3页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金资助项目(39570391)

摘　　要：目的检测原发性高胆固醇血症患者载脂蛋白B-100（apoB-100）可能存在的突变体，探讨原发性高胆固醇血症遗传背景。方法收集1996-2008年暨南大学附属第一医院住院或定期检查患者，诊断为家族性高胆固醇血症先证者及家族成员共41例，应用聚合酶链反应（PCR）技术扩增apoB-100基因第26外显子编码10549～10895号核苷酸DNA片段，地高辛配基标记的等位基因特异性寡核苷酸探针进行斑点杂交，单链构像多态性分析（SSCP）筛查受检者apoB-100基因是否存在3531碱基CGC—CGT突变或其他可能的突变。结果11个原发性高胆固醇血症家族的41例成员中未检出上述基因突变。结论上述基因突变在中国人群中不存在或发生率很低，可能不是引起此11个家族成员原发性高胆固醇血症的原因。Objective To detect genetic mutation of apolipoprotein B-100（apoB-100） in patients with primary hypercholesterolemia. Methods One special segment of apoB-100 gene from nucleotide 10549 to 10895 was amplified by polymerase chain reaction（PCR）. The PCR products were denatured and hybridized with specific aligonucleotide labeled with digoxigenin,and were analyzed by single strand conformation polymorphism （SSCP）to detect the apoB-100 gene mutation 3531CGC→CGT or other mutations. Results Overall 41 members of 11 primary hypercholesterolemia families were detected, but the above genetic mutation was not detected. Conclusion This genetic mutation is unlikely to exist or of significantly low incidence in Chinese population, and might not be the main cause of primary hypercholesterolemia in the 11 primary hypercholesterolemia families.

关 键 词：高胆固醇血症 载脂蛋白B 

分 类 号：R5[医药卫生—内科学]