Genetic exclusion of apo-B gene in recessive abetalipoproteinemia.
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.
Pessah
M
M
INSERM 1 U.55, Hôpital St-Antoine, Paris.
Beucler
I
I
Loux
N
N
Navarro
J
J
Guillerd
X
X
Dulac
O
O
Lequeux
J
J
Junien
C
C
Infante
R
R
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
D001055:Apolipoproteins B; D009838:Oligodeoxyribonucleotides