载脂蛋白B-100受体结合缺陷新变种的检测  

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

作　　者：李颖[1] 冯建生[1] 李文典[2] 

机构地区：[1]暨南大学医学院生化教研室,广州新加坡国立大学510632 [2]珠海市妇幼保健院

出　　处：《中华医学杂志》2001年第23期1434-1435,共2页National Medical Journal of China

基　　金：国家自然科学基金资助项目 ( 395 70 391)

摘　　要：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 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.

关 键 词：载脂蛋白B 高胆固醇血症 单链构像多态性 家族性 apoB-100缺陷症 FDB 

分 类 号：R341[医药卫生—基础医学]