A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
In a Japanese patient with familial LPL deficiency, a new null allelic mutation, one base pair deletion at nucleotide position 916 was identified in exon 5 of one allele. In exon 3 of the other allele, we found the same nonsense mutation as we described previously in other Japanese kindreds. For the deletional mutant allele, we developed a simple detection method and constructed the DNA haplotype.
Gotoda
T
T
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Yamada
N
N
Murase
T
T
Miyake
S
S
Murakami
R
R
Kawamura
M
M
Kozaki
K
K
Mori
N
N
Shimano
H
H
Shimada
M
M
D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology* / Q000235:genetics; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction
D008071:Lipoprotein Lipase