Abstract |
Heterozygous hypobetalipoproteinemia is characterized by reduced plasma concentrations of LDL cholesterol, total triglycerides, and apo B to less than 50% of normal values. The molecular basis of this disorder remains unknown. The phenotype cosegregates with a DNA haplotype of the apo B gene in an Idaho pedigree, with a maximum decimal logarithm of the ratio (LOD) score of 7.56 at a recombination rate of zero. Individuals carrying this haplotype had total cholesterol levels of 96 mg/dl, LDL cholesterol levels of 37 mg/dl, triglycerides levels of 51 mg/dl, and apo B levels of 38 mg/dl. This study strongly suggests that apo B mutations underlie hypobetalipoproteinemia, and demonstrates the power of the candidate gene approach in linkage analysis for unraveling genetic determinants in metabolic disorders of undefined etiology.
|
Authors | M Leppert, J L Breslow, L Wu, S Hasstedt, P O'Connell, M Lathrop, R R Williams, R White, J M Lalouel |
Journal | The Journal of clinical investigation
(J Clin Invest)
Vol. 82
Issue 3
Pg. 847-51
(Sep 1988)
ISSN: 0021-9738 [Print] United States |
PMID | 2901434
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
|
Chemical References |
|
Topics |
- Adolescent
- Adult
- Aged
- Analysis of Variance
- Apolipoproteins B
(blood, deficiency, genetics)
- Child
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Hypobetalipoproteinemias
(blood, genetics)
- Hypolipoproteinemias
(genetics)
- Lipids
(blood, genetics)
- Male
- Middle Aged
- Mutation
- Nuclear Family
- Pedigree
- Polymorphism, Restriction Fragment Length
|