Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution (Ser----Thr244), while the other alters the 3' splice site of intron 2 (AG----AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells.
Hata
A
A
Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City 84132.
Emi
M
M
Luc
G
G
Basdevant
A
A
Gambert
P
P
Iverius
P H
PH
Lalouel
J M
JM
D000595:Amino Acid Sequence; D001053:Apolipoproteins / Q000097:blood; D001483:Base Sequence; D002648:Child; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000235:genetics; D007438:Introns; D008055:Lipids / Q000097:blood; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010957:Plasmids / Q000235:genetics; D012694:Serine / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
D001053:Apolipoproteins; D008055:Lipids; D013912:Threonine; D012694:Serine; D004247:DNA; D008071:Lipoprotein Lipase