title: Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.
abstract: Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholesterolemia. Ten markers were used for haplotyping: eight diallelic markers within the structural gene and two hypervariable loci flanking the gene. Seven of eight unequivocally deduced haplotypes were identical, and one revealed only a minor difference at one of the hypervariable loci. The genotypes of the six other affected subjects were consistent with this same assigned haplotype. These data are consistent with a common ancestral chromosome and provide no evidence for a recurrent mutation at this potentially hypermutable CG dinucleotide, despite the fact that this mutation is not rare.
authors.affiliation: Gladstone Foundation Laboratories for Cardiovascular Disease, San Francisco, CA 94140-0608.
authors.forename: E H
authors.initials: EH
authors.lastname: Ludwig
authors.forename: B J
authors.initials: BJ
authors.lastname: McCarthy
mesh_terms: D000483:Alleles; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D005819:Genetic Markers