【摘要 】目的 研究家族性载脂蛋白B-100缺陷症在高胆固醇血症患者中的发生频率。方法 应用聚合酶链反应(PCR)结合地高辛配基标记的等位基因特异寡核苷酸探针杂交技术，分析受检者DNA的载脂蛋白B基因是否存在密码子3500CGG→CAG突变。结果 362例高胆固醇血症患者均未检出上述突变基因。结论 上述遗传缺陷在广东人群中不常见，不是高胆固醇血症的主要原因 。

Cai Qilu,Yu Ruimin, Feng Jiansheng

    Medical College of Jinan University, Guangzhou 510632

【Abstract】 Objective To estimate the frequency of familial defective apolipoprotein B-100 in hypercholesterolemia Chinese. Methods The DNA samples were analyzed to detect the apo B gene mutation 3500 CGG→CAG by digoxigenin labeled allele specific oligonucleotides hybridization of PCR amplified DNA.Results In a total number of 301 cases of type Ⅱa and 61 cases of Ⅱb hypercholesterolemia, no positive case was detected.Conclusion This genetic disorder might be rare and unimportant as the cause of hypercholesterolemia in Guangdong population.

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