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目的 筛查导致家族性载脂蛋白B 10 0 (apoB 10 0 )受体结合缺陷的未知突变 ,以阐明高胆固醇血症的遗传背景 ,了解apoB 10 0受体结合区的定位。方法 以原发性高胆固醇血症患者为对象 ,用聚合酶链反应 (PCR)扩增apoB基因第 2 6外显子编码 2 980 30 84位氨基酸残基的核苷酸序列 ,长36 3碱基对 ,产物进行单链构像多态性 (SSCP)分析 ,以筛查可能存在的突变。结果 34 1例样本的SSCP图谱均未发现异常电泳带。结论 (1)广东原发性高胆固醇血症患者上述区段不存在突变 ,或突变率很低。 (2 )不支持 2 980 30 84残基是apoB 10 0的受体结合区的假说。
Objective To screen unknown mutations that lead to defective binding of the familial apolipoprotein B 10 0 (apoB 10 0) receptor to elucidate the genetic background of hypercholesterolemia and to understand the location of the apoB 10 0 receptor binding domain. Methods The patients with primary hypercholesterolemia were enrolled in this study. The nucleotide sequence of amino acid residue 2 246 30 84 of apoB gene was amplified by polymerase chain reaction (PCR) Base pairs, the product single-stranded conformational polymorphism (SSCP) analysis to screen for possible mutations. RESULTS: No abnormal electrophoresis bands were found in the SSCP patterns of 34 samples. Conclusions (1) There is no mutation in the above-mentioned segments of Guangdong patients with primary hypercholesterolemia or the mutation rate is very low. (2) Not supported 2 980 30 84 Residues are the hypothesis of the receptor binding region of apoB 10 0.