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Plasminogen with type-I mutation is polymorphic in the Japanese population
S Kikuchi1, Y Yamanouchi, L Li
1Department of Medical Genetics, University of Tsukuba, Japan.
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.
Insights
The type-I mutation, a specific plasminogen (PLG) gene alteration, is present in the PLG M5 variant. This mutation is common in the Japanese population, indicating PLG M5 is identical to PLG Tochigi and Kagoshima.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Plasminogen (PLG) M5 is a functionally inactive variant found in the Japanese population.
- PLG M5 shares characteristics with PLG type-I mutation, specifically a missense mutation at codon 601 in exon 15 (Ala601Thr).
Purpose of the Study:
- To confirm the presence of the type-I mutation in PLG M5.
- To determine the prevalence of this mutation in the Japanese population.
Main Methods:
- Direct DNA sequencing of the PLG gene in PLG M5 heterozygotes.
- Dot blot hybridization using allele-specific oligonucleotide probes to detect the type-I mutation.
Main Results:
- Exon 15 sequences in PLG M5 heterozygotes matched those of the PLG type-I mutation.
- The type-I mutation was detected in 2.2% of 360 healthy Japanese subjects.
- PLG M5 demonstrated identity with PLG Tochigi and PLG Kagoshima variants.
Conclusions:
- The type-I mutation is present in the PLG M5 variant.
- The PLG type-I mutation is polymorphic in the Japanese population.
- PLG M5 is genetically identical to PLG Tochigi and PLG Kagoshima.