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  • Title: Genetic exclusion of apo-B gene in recessive abetalipoproteinemia.
    Author: Pessah M, Beucler I, Loux N, Navarro J, Guillerd X, Dulac O, Lequeux J, Junien C, Infante R.
    Journal: Biochem Biophys Res Commun; 1993 Jan 15; 190(1):97-103. PubMed ID: 8422264.
    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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