Anderson's disease : genetic exclusion of the apolipoprotein-B gene in two families

Anderson's disease is a recessive disorder characterized by intestinal fat malabsorption, absence of postprandial chylomicrons, and reduced levels of cholesterol, triglycerides, and apoproteins B, AI, and C. We have studied two families with, respectively, three and two children with Anderson&#...

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Published inThe Journal of clinical investigation Vol. 87; no. 1; pp. 367 - 370
Main Authors PESSAH, M, BENLIAN, P, BEUCLER, I, LOUX, N, SCHMITZ, J, JUNIEN, C, INFANTE, R
Format Journal Article
LanguageEnglish
Published Ann Arbor, MI American Society for Clinical Investigation 1991
Subjects
Adolescent
Apolipoproteins B - genetics
Biological and medical sciences
Chylomicrons - metabolism
Female
Humans
Malabsorption Syndromes - genetics
Male
Medical sciences
Metabolic diseases
Human
Family study
Intestinal malabsorption
Secretion
Digestive diseases
Intestinal disease
Lipoprotein
Genetic disease
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Summary:Anderson's disease is a recessive disorder characterized by intestinal fat malabsorption, absence of postprandial chylomicrons, and reduced levels of cholesterol, triglycerides, and apoproteins B, AI, and C. We have studied two families with, respectively, three and two children with Anderson's disease. Intestinal apo-B and apo-AIV mRNAs from two Anderson's patients were normal in size but their concentration was decreased fivefold compared with controls. After DNA digestion with seven restriction enzymes, restriction fragment length polymorphisms of apo-B gene did not show conclusive information except for Xba1, which revealed a lack of cosegregation between the restriction fragment length polymorphism and the Anderson's phenotype. Linkage analysis was performed using the polymorphism of the apo-B gene 3'minisatellite. Genomic DNA from parents and children was amplified by polymerase chain reaction using oligonucleotide primers flanking the apo-B gene 3'hypervariable locus. In both families each child inherited different apo-B alleles from at least one parent. According to the recessive mode of transmission of the disease, our results are incompatible with the involvement of the apo-B gene. More likely a posttranslational defect or a mutation in another gene encoding a protein essential for lipoprotein assembly or secretion may be involved.
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ISSN:0021-9738
1558-8238
DOI:10.1172/JCI114996