title: Genetic exclusion of apo-B gene in recessive abetalipoproteinemia.
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.
authors.affiliation: INSERM 1 U.55, Hôpital St-Antoine, Paris.
authors.forename: M
authors.initials: M
authors.lastname: Pessah
authors.forename: I
authors.initials: I
authors.lastname: Beucler
authors.forename: N
authors.initials: N
authors.lastname: Loux
authors.forename: J
authors.initials: J
authors.lastname: Navarro
authors.forename: X
authors.initials: X
authors.lastname: Guillerd
authors.forename: O
authors.initials: O
authors.lastname: Dulac
authors.forename: J
authors.initials: J
authors.lastname: Lequeux
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: R
authors.initials: R
authors.lastname: Infante
mesh_terms: D000012:Abetalipoproteinemia / Q000097:blood / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015183:Restriction Mapping
chemical_list: D001055:Apolipoproteins B; D009838:Oligodeoxyribonucleotides