FAMILIAL HYPERCHOLESTEROLEMIA CAUSED BY A NONSENSE MUTATION IN CODON-329 OF THE LDL RECEPTOR GENE

被引：13
作者：
SOLBERG, K
RODNINGEN, OK
TONSTAD, S
OSE, L
LEREN, TP
机构：
[1] ULLEVAL UNIV HOSP,DEPT MED GENET,N-0315 OSLO,NORWAY
[2] NATL HOSP NORWAY,LIPID CLIN,OSLO,NORWAY
来源：
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION | 1994年 / 54卷 / 08期
关键词：
CHOLESTEROL; DNA SEQUENCING; FAMILIAL HYPERCHOLESTEROLEMIA; LOW DENSITY LIPOPROTEIN RECEPTOR; MUTATION; SINGLE-STRAND CONFORMATION POLYMORPHISMS;
D O I：
10.3109/00365519409087539
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Analysis of single-strand conformation polymorphisms (SSCP) was employed to screen familial hypercholesterolaemia (FH) subjects for point mutations in exon 7 of the low density lipoprotein receptor (LDLR) gene. An abnormal band pattern was found in one out of 100 unrelated FH subjects. The underlying mutation was found by DNA sequencing to be due to heterozygosity (C/T) at nucleotide 1048. Nucleotide 1048 is the first nucleotide of codon 329, and is located within the domain that has a high degree of homology with the precursor for epidermal growth factor. The C --> T transition, referred to as FH-Fossum, changes codon 329 from CGA(Arg) to TGA(Stop). The mutation is expected to cause a class 1 receptor defect.
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页码：605 / 609
页数：5
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