title: Identification of homozygosity for a human apolipoprotein A-I variant.
abstract: An apolipoprotein (apo) A-I variant, previously described in two Norwegian families (Schamaun et al. 1983. Hum. Genet. 64: 380-383), represents a mutation in apoA-I in which a single amino acid substitution of lysine for glutamic acid has taken place at residue 136. An offspring resulting from intermarriage between the two families is genotypically homozygous for this variant. He is the first individual discovered to be homozygous for any of the apoA-I variants. Analysis of lipid data collected from these families indicates one or more lipid abnormalities. The low density lipoproteins (LDL) of subjects having this apoA-I variant demonstrate a compositional abnormality. The plasma cholesterol concentration in the homozygous subject is low because of the extremely reduced levels of LDL and apoB, a property shared by some of his first-degree relatives. However, because of the presence of apoE2 in this family, it is not possible to definitively link these lipid abnormalities to the presence of the A-I variant.
mesh_terms: D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000097:blood; D001054:Apolipoproteins A / Q000097:blood / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009664:Norway; D010641:Phenotype; D002785:Sterol O-Acyltransferase / Q000097:blood
chemical_list: D000596:Amino Acids; D001054:Apolipoproteins A; D008074:Lipoproteins; D002785:Sterol O-Acyltransferase