Journal of Lipid Research, Vol 34, 799-805, Copyright © 1993 by Lipid Research, Inc.

ARTICLES

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

G Rauh, H Schuster, CK Schewe, G Stratmann, C Keller, G Wolfram and N Zollner
Medizinische Poliklinik der Universitat, Munchen, Germany.

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.
CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				C. R. Pullinger, D. Gaffney, M. M. Gutierrez, M. J. Malloy, V. N. Schumaker, C. J. Packard, and J. P. Kane The apolipoprotein B R3531C mutation: characteristics of 24 subjects from 9 kindreds J. Lipid Res., February 1, 1999; 40(2): 318 - 327. [Abstract] [Full Text]

				D.-Y. Tai, J.-P. Pan, and G.-J. Lee-Chen Identification and haplotype analysis of apolipoprotein B-100 Arg3500->Trp mutation in hyperlipidemic Chinese Clin. Chem., August 1, 1998; 44(8): 1659 - 1665. [Abstract] [Full Text] [PDF]

				M.-L. Choong, E. S. C. Koay, K.-L. Khoo, M.-C. Khaw, and S. K. Sethi Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500 -> tryptophan mutation associated with a unique haplotype Clin. Chem., June 1, 1997; 43(6): 916 - 923. [Abstract] [Full Text] [PDF]

				P.S. Hansen, J.C. Defesche, J.J.P. Kastelein, L.U. Gerdes, L. Fraza, C. Gerdes, F. Tato, H.K. Jensen, L.G. Jensen, I.C. Klausen, et al. Phenotypic Variation in Patients Heterozygous for Familial Defective Apolipoprotein B (FDB) in Three European Countries Arterioscler. Thromb. Vasc. Biol., April 1, 1997; 17(4): 741 - 747. [Abstract] [Full Text]

				A. R. Miserez and U. Keller Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia Arterioscler. Thromb. Vasc. Biol., October 1, 1995; 15(10): 1719 - 1729. [Abstract] [Full Text]