Independent mutation of arginine(3500)-->glutamine associated with familial defective apolipoprotein B-100.
J Lipid Res
; 34(5): 799-805, 1993 May.
Article
en En
| MEDLINE
| ID: mdl-8509718
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Apolipoproteínas B
/
Hiperlipoproteinemia Tipo II
/
Lipoproteínas LDL
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Lipid Res
Año:
1993
Tipo del documento:
Article
País de afiliación:
Alemania