INDEPENDENT MUTATION OF ARGININE(3500)-]GLUTAMINE ASSOCIATED WITH FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100

被引:0
|
作者
RAUH, G
SCHUSTER, H
SCHEWE, CK
STRATMANN, G
KELLER, C
WOLFRAM, G
ZOLLNER, N
机构
关键词
ATHEROSCLEROSIS; HYPERCHOLESTEROLEMIA; HAPLOTYPES; GENETIC MUTATION;
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Familial defective apolipoprotein B-100 (FDB) is characterized by a decreased affinity of low density lipoprotein (LDL) to the LDL receptor resulting in a dominantly inherited increase of plasma LDL. It is postulated that FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the apoB gene creating a substitution of glutamine for arginine in amino acid 3500. The arginine(3500)-->glutamine mutation has been identified on the same haplotype of the apoB gene in several populations from North America and Europe, suggesting that it occurred on a single ancestral gene. Independent mutations were not observed. The purpose of this paper is to report on a family where individuals show a dominantly inherited increase of plasma LDL associated with an independent arginine(3500)-->glutamine mutation as determined by haplotype analysis using polymorphic markers of the apoB gene. The identification of these individuals is strong evidence that the arginine(3500)-->glutamine mutation is causative for the defective binding of apoB-100.
引用
收藏
页码:799 / 805
页数:7
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