Variable expression of the mutation in familial defective apolipoprotein B-100.
Although most subjects with familial defective apolipoprotein B-100 (FDB) have raised plasma low-density lipoprotein (LDL) levels, a few have LDL levels within the normal range. We have previously identified two normocholesterolemic FDB heterozygotes in an affected family. Results obtained from a study of this family are compatible with a major genetic contribution to the normocholesterolemia in the two heterozygotes. However, our findings are not compatible with inheritance of a variant normal allele at the apolipoprotein B locus in this family that neutralizes the effect of an FDB allele on the plasma LDL level. Polymorphic variations at the apolipoprotein E and LDL receptor loci did not explain the presence of normal LDL levels in the two heterozygous FDB subjects.
Gallagher
J J
JJ
MRC Lipoprotein Team, Hammersmith Hospital, London, UK.
Myant
N B
NB
D000328:Adult; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D002648:Child; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006238:Haploidy; D006579:Heterozygote; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics / Q000378:metabolism
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D011973:Receptors, LDL