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Genetic Exclusion of apo-B Gene in Recessive Abetalipoproteinemia

Authors
Publisher
Elsevier Inc.
Publication Date
Volume
190
Issue
1
Identifiers
DOI: 10.1006/bbrc.1993.1016
Disciplines
  • Biology
  • Medicine

Abstract

Abstract Abetalipoproteinemia is a recessive genetic disorder of unknown origin, which is characterized by absence of circulating apo-B-containing lipoproteins, malabsorption of intestinal fat, and degenerative neurological and retinal lesions. In this study, four families were analysed for genetic linkage between the abetalipoproteinemia phenotype and the apo-B genotype determined from polymorphisms of XbaI, MsPI, EcoRI and PvuII restriction sites and that of the 3′-minisatellite of the apo-B gene. The results definitively exclude mutation of the apo-B gene as a causal factor of abetalipoproteinemia in three families. Consanguinity of the parents in the fourth family made genotyping less conclusive.

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