title: Plasminogen with type-I mutation is polymorphic in the Japanese population.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of Tsukuba, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kikuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Yamanouchi
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: H
authors.initials: H
authors.lastname: Ijima
authors.forename: R
authors.initials: R
authors.lastname: Miyazaki
authors.forename: S
authors.initials: S
authors.lastname: Tsuchiya
authors.forename: H
authors.initials: H
authors.lastname: Hamaguchi
mesh_terms: 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*
chemical_list: D015345:Oligonucleotide Probes; D010958:Plasminogen