Independent mutation of arginine(3500)→glutamine associated with familial defective apolipoprotein B-100

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...

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Bibliographic Details
Published in:Journal of lipid research 1993-05, Vol.34 (5), p.799-805
Main Authors: RAUH, G, SCHUSTER, H, SCHEWE, C. K, STRATMANN, G, KELLER, C, WOLFRAM, G, ZÖLLNER, N
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Apolipoprotein B-100
Apolipoproteins B - genetics
Apolipoproteins B - metabolism
Arginine - genetics
Base Sequence
Biological and medical sciences
Female
Fundamental and applied biological sciences. Psychology
Genes, Dominant - genetics
Genes. Genome
Genetic Markers
Germany - ethnology
Glutamine - genetics
Haplotypes
Humans
Hyperlipoproteinemia Type II - genetics
Lipoproteins, LDL - metabolism
Male
Middle Aged
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Mutation
Pedigree
Structure-Activity Relationship
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Summary: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.
ISSN:0022-2275
1539-7262
DOI:10.1016/S0022-2275(20)39700-5