【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。更多还原

【Abstract】 Objective To estimate thefrequency of familial defective apolipoprotein B- 100 in hyperc holesterolemia Chinese. Methods The DNA samples were analyzed to detect the apo Bgene mutation 3500 CGG →CAG by digoxigenin labeled allele specific oligonucleotides hybridization of PCR amplified DNA. Results In atotal number of301 cases oftype Ⅱa and 61 cases of Ⅱb hypercholesterolemia, no positive case was detected .Conclusion Thisgenetic disorder mightbe rare and unimportantasthe cause of hypercholesterolemia in Guangdong population .更多还原