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. 1988 Sep;82(3):847–851. doi: 10.1172/JCI113688

Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.

M Leppert 1, J L Breslow 1, L Wu 1, S Hasstedt 1, P O'Connell 1, M Lathrop 1, R R Williams 1, R White 1, J M Lalouel 1
PMCID: PMC303592  PMID: 2901434

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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