在一个哥斯达黎加家庭中发现导致家族性高胆固醇血症的新型终止突变。

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.

作者信息

Thiart R, Loubser O, de Villiers J N, Santos M, Kotze M J

机构信息

Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.

出版信息

Mol Cell Probes. 1997 Dec;11(6):457-8. doi: 10.1006/mcpr.1997.0134.

DOI:10.1006/mcpr.1997.0134

PMID:9500809

Abstract

Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). This nonsense mutation, Q665X, results in a termination codon in the epidermal growth factor (EGF) precursor homology domain of the mature LDLR.

摘要

对低密度脂蛋白受体（LDLR）基因启动子和编码区进行的联合异源双链单链构象多态性（HEX-SSCP）分析显示，在一名患有杂合子家族性高胆固醇血症（FH）的哥斯达黎加患者中，第2056位核苷酸处存在一个新的C到T突变。这个无义突变Q665X在成熟LDLR的表皮生长因子（EGF）前体同源结构域中产生了一个终止密码子。