国人家族性载脂蛋白B-100缺陷症的检测

Screening for familial defective APOB-100 in Chinese

目的:检测广州地区高胆固醇血症患者载脂蛋白B 100可能存在的突变体。方法:应用聚合酶链反应(PCR)技术扩增APOB基因第26外显子编码10549 10895号核苷酸的DNA片段,用地高辛配基标记的等位基因特异寡核苷酸探针进行斑点杂交,分析受检者的载脂蛋白B- 100基因是否存在密码子3531CGC→CGT突变。结果: 362例原发性高胆固醇血症患者中未检出上述基因突变。结论:上述基因突变在广州人群中不存在或发生率很低。

Objective:To screen apolipoprotein B-100 mutation in Chinese with hypercholesterolemia. Methods:A segment of APOB gene from nucleotide 10549 to 10895 was amplified by PCR. The PCR protucts was denatured and bybridized with specific aligonucleotide labed with digoxigenin to detect the APOB gene mutation 3531CGC→CGT.Results:362 cases of hypercholesterolemia was screened, but not a single proband was detected.Conclusion:This genetic mutation is unlikely to exist, or rare in GuangZhou population.