Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

Journal Article · Sun Jan 01 00:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.2.587· OSTI ID:7018777

Soria, L F; Ludwig, E H; Clarke, H R.G.; McCarthy, B J ^[1]; Vega, G L; Grundy, S M ^[2]

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1. Univ. of California, San Francisco (USA)
2. Univ. of Texas, Dallas (USA)

Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the apoB,E(LDL) receptor. The disorder appears to result from a mutation in the gene for apoB-100. Extensive sequence analysis of the two alleles of one subject heterozygous for the disorder has revealed a previously unreported mutation in the codon for amino acid 3500 that results in the substitution of glutamine for arginine. This same mutant allele occurs in six other, unrelated subjects and in eight affected relatives in two of these families. A partial haplotype of this mutant apoB-100 allele was constructed by sequence analysis and restriction enzyme digestion at positions where variations in the apoB-100 are known to occur. This haplotype is the same in three probands and four affected members of one family and lacks a polymorphic Xba I site whose presence has been correlated with high cholesterol levels. Thus, it appears that the mutation in the codon for amino acid 3500 (CGG {yields} CAG), a CG mutational hot spot, defines a minor apoB-100 allele associated with defective low density lipoproteins and hypercholesterolemia.

• OSTI ID: 7018777
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:2; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
APOLIPOPROTEINS
DNA BASE TRANSITIONS
CHOLESTEROL
BLOOD CHEMISTRY
HEREDITARY DISEASES
ETIOLOGY
CODONS
DNA SEQUENCING
GENE MUTATIONS
LIPOPROTEINS
PHOSPHORUS 32
RECEPTORS
RECOMBINANT DNA
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
HYDROXY COMPOUNDS
ISOTOPES
LIGHT NUCLEI
LIPIDS
MEMBRANE PROTEINS
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHORUS ISOTOPES
PROTEINS
RADIOISOTOPES
STEROIDS
STEROLS
STRUCTURAL CHEMICAL ANALYSIS
550401* - Genetics- Tracer Techniques