对46个德国家庭的家族性高胆固醇血症进行的突变分析：鉴定出8个新突变。简短突变报道第226号。在线发布。

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

作者信息

Ebhardt M, Schmidt H, Doerk T, Tietge U, Haas R, Manns M P, Schmidtke J, Stuhrmann M

机构信息

Institut fuer Humangenetik, Medizinische Hochschule Hannover, Germany.

出版信息

Hum Mutat. 1999;13(3):257. doi: 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A.

DOI:10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A

PMID:10090484

Abstract

In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intron sequences including the promotor region of the LDL receptor (LDLR) gene. In addition, we tested all patients for the presence of mutations in the gene coding for apolipoprotein B-100 (apoB-100). We detected 15 mutations affecting the LDLR gene, 8 of which, designated A29S, 195insAT, 313+1insG, 553insG, 680insGGACAAATCTG, D200N, E267K and L411V have not yet been reported. One patient is heterozygous for the double mutant N543H and 2393del9Bp. Two patients carried the mutation R3500Q (Arg-->Glu) within the apoB-100 gene.

摘要

为了全面了解德国北部普遍存在的突变情况，并为临床诊断为家族性高胆固醇血症（FH）的家庭提供分子遗传学检测，我们对46名低密度脂蛋白（LDL）水平升高的非亲属德国个体进行了筛查，检测其低密度脂蛋白受体（LDLR）基因的18个外显子及其侧翼内含子序列（包括启动子区域）中的突变。此外，我们还检测了所有患者载脂蛋白B-100（apoB-100）编码基因中的突变情况。我们检测到15个影响LDLR基因的突变，其中8个，即A29S、195insAT、313+1insG、553insG、680insGGACAAATCTG、D200N、E267K和L411V尚未见报道。一名患者为双突变N543H和2393del9Bp的杂合子。两名患者在apoB-100基因中携带R3500Q（Arg→Glu）突变。