Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.
Familial hypobetalipoproteinemia is a syndrome in which the plasma levels of apolipoprotein B (apo-B) and cholesterol are abnormally low. A truncated species of apo-B was identified in the plasma lipoproteins of members of a kindred with familial hypobetalipoproteinemia. DNA sequencing studies on genomic clones and enzymatically amplified genomic DNA samples revealed a four-base pair deletion in the apo-B gene. This short deletion, which results in a frameshift and a premature stop codon, accounts for the truncated apo-B species and explains the low apo-B and low cholesterol levels in this family.
Young
S G
SG
Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.
Northey
S T
ST
McCarthy
B J
BJ
D001055:Apolipoproteins B / Q000235:genetics*; D002784:Cholesterol / Q000097:blood*; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
D001055:Apolipoproteins B; D002784:Cholesterol