Plasminogen with type-I mutation is polymorphic in the Japanese population.
A functionally inactive plasminogen (PLG) variant designated as PLG M5 is polymorphic in the Japanese population and has a feature common to PLG with type-I mutation that has a codon 601 missense mutation in exon 15 (GCT for Ala-->ACT for Thr). This study was conducted to clarify whether the type-I mutation of PLG is present in PLG M5 and polymorphic in the Japanese population. Direct sequencing of the amplified DNA from the PLG gene in a heterozygote for PLG M5 revealed that the sequence of the exon 15 in the gene for PLG M5 is identical with that in the PLG gene with type-I mutation. In addition, the amplified DNA from the PLG gene in 12 heterozygotes for PLG M5 reacted with the probe for the type-I mutation in dot blot hybridization with an allele-specific oligonucleotide probe. The heterozygote for PLG with type-I mutation was found in 2.2% of 360 unrelated healthy subjects. These data indicate that the type-I mutation of PLG is present in PLG M5 and polymorphic in the Japanese population. The data also suggest that the PLG M5 is identical with PLG Tochigi and Kagoshima.
Kikuchi
S
S
Department of Medical Genetics, University of Tsukuba, Japan.
Yamanouchi
Y
Y
Li
L
L
Kobayashi
K
K
Ijima
H
H
Miyazaki
R
R
Tsuchiya
S
S
Hamaguchi
H
H
D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D015153:Blotting, Western; D005091:Exons / Q000235:genetics; D006801:Humans; D007525:Isoelectric Focusing; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D015345:Oligonucleotide Probes / Q000235:genetics; D010958:Plasminogen / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
D015345:Oligonucleotide Probes; D010958:Plasminogen