Genetic studies of an apoA-I lipoprotein variant.
ApoA-I is the major apolipoprotein component of human high density lipoproteins (HDL). By a 2-D electrophoretic study of serum samples from Norwegian families, an apoA-I variant (apoA-I 2-1) was detected in a healthy individual. In the present study performed to elucidate formal and population genetic aspects of apoA-I, this variant was observed in 4 generations of the family of the propositus. One homozygous individual was found. A codominant autosomal Mendelian inheritance was established for the variant. Two heterozygotes were found among 124 unrelated individuals tested. The apoA-I 2 allele frequency was calculated as 0.008 in this population sample.
D016632:Apolipoprotein A-I; D001053:Apolipoproteins / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008075:Lipoproteins, HDL / Q000235:genetics*; D008297:Male; D009664:Norway; D010375:Pedigree
D016632:Apolipoprotein A-I; D001053:Apolipoproteins; D008075:Lipoproteins, HDL