载脂蛋白B-100受体结合缺陷新变种的检测

目的：筛查导致家族性载脂蛋白B－100（apoB-100）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-100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26外显子编码2980－3084位氨基酸残基的核苷酸序列,长363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：341例样本的SSCP图像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2980－3084残基是apoB-100的受体结合区的假说。

Screening for the new variant of defective receptor-binding apolipoprotein B-100

OBJECTIVE: To detect possibly existing unknown mutation(s) in nucleotide sequence coding amino acid residues 2,980 to 3,084, that may lead to familial defective apo B-100, and to provide evidence for evaluating the putative receptor binding domain of apo B-100. METHODS: The nucleotide sequence coding the amino acid resudues 2,980-3,084 of apo B gene in 341 patients with primary hypercholesteremia and of 50 controls was amplified by PCR and subjected to single strand conformational polymorphism analysis under optimized conditions. RESULTS: No abnormal electrophoretic figure was found in the samples from 341 hypercholesterlemic patients and 50 controls. CONCLUSION: (1) Point mutation causing hypercholesterlemia is unlikely to exist, or rare, if any, in the codons 2,980-3,084 of apo B-100 in Chinese. (2) Amino acid residues 2,980-3,084 may not be involved in the receptor-binding of apo B-100.