Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.
Primary hypoalphalipoproteinemia is associated with atherosclerosis and exhibits significant familial aggregation. To reveal the presence of autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene, the apolipoprotein A-I gene was analyzed in a Japanese family with low levels of HDL cholesterol and apolipoprotein A-I. An insertion of a C in the region of the seven C run between codons 3 and 5 was detected in the apolipoprotein A-I gene. The heterozygous state for the mutation was associated with approximately 50% of the normal HDL cholesterol levels and of the normal apolipoprotein A-I levels. The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.
Nakata
K
K
Department of Medical Genetics, University of Tsukuba, Japan.
Kobayashi
K
K
Yanagi
H
H
Shimakura
Y
Y
Tsuchiya
S
S
Arinami
T
T
Hamaguchi
H
H
D000328:Adult; D000595:Amino Acid Sequence; D016632:Apolipoprotein A-I / Q000235:genetics* / Q000378:metabolism; D001053:Apolipoproteins / Q000378:metabolism; D001161:Arteriosclerosis / Q000150:complications / Q000235:genetics; D001483:Base Sequence; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D006801:Humans; D007009:Hypolipoproteinemias / Q000150:complications / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D012016:Reference Values
D016632:Apolipoprotein A-I; D001053:Apolipoproteins; D015345:Oligonucleotide Probes