Skip to main content
Log in

Plasminogen with type-I mutation is polymorphic in the Japanese population

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

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 heterozyotes 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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Aoki N, Moroi M, Sakata Y, Yoshida N, Matsuda M (1978) Abnormal plasminogen: a hereditary molecular abnormality found in a patient with recurrent thrombosis. J Clin Invest 61:1186–1195

    Google Scholar 

  • Aoki N, Tateno K, Sakata Y (1984) Differences of frequency distributions of plasminogen phenotypes between Japanese and American populations: new methods for the detection of plasminogen variants. Biochem Genet 22:871–881

    Google Scholar 

  • Hobart MJ (1979) Genetic polymorphism of human plasminogen. Ann Hum Genet 42:419–423

    Google Scholar 

  • Ichinose A, Espling ES. Takamatsu J, Saito H, Shinmyozu K, Maruyama I, Petersen TE, Davie EW (1991) Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis. Proc Natl Acad Sci USA 88:115–119

    Google Scholar 

  • Matsunaga T, Hiasa Y, Yanagi H, Maeda T. Hattori N, Yamakawa K, Yamanouchi Y, Tanaka I, Obara T, Hamaguchi H (1991) Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. Proc Natl Acad Sci USA 88:2793–2797

    CAS  PubMed  Google Scholar 

  • Miyata T, Iwanaga S, Sakata Y, Aoki N (1982) Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site. Proc Natl Acad Sci USA 79:6132–6136

    Google Scholar 

  • Miyata T, Iwanaga S, Sakata Y, Aoki N. Takamatsu J, Kamiya T (1984) Plasminogen Tochigi II and Nagoya: two additional molecular defects with Ala-600 →Thr replacement found in plasin light chain variants. J Biochem 96:277–287

    Google Scholar 

  • Murray JC, Buetow KH, Donovan M, Hornung S, Motulsky AG. Disteche C, Dyer K, Swisshelm K, Anderson J, Giblett E, Sadler E, Eddy R, Shows TB (1987) Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26–6 q27. Am J Hum Genet 40:338–350

    Google Scholar 

  • Nakamura S, Abe K (1982) Genetic polymorphism of human plasminogen in the Japanese population: new plasminogen variants and relationship between plasminogen phenotypes and their biological activities. Hum Genet 60:57–59

    Google Scholar 

  • Nishigaki T, Omoto K (1982) Genetic polymorphism of human plasminogen in Japanese: correspondence of alleles thus far reported in Japanese and difference of activity among phenotypes. Jpn J Hum Genet 27:341–348

    Google Scholar 

  • Nishimukai H, Kera Y, Sakata K, Yamasawa K (1981) Genetic polymorphism of plasminogen: a new basic variant (PLG B) and population study in Japanese. Vox Sang 40:422–425

    Google Scholar 

  • Nishimukai H, Shinmyozu K, Tamaki Y (1986) Polymorphism of plasminogen in healthy individuals and patients with cerebral infarction. Hum Hered 36:137–142

    Google Scholar 

  • Petersen TE, Martzen MR, Ichinose A, Davie EW (1990) Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system. J Biol Chem 265:6104–6111

    Google Scholar 

  • Raum D, Marcus D, Alper CA (1980) Genetic polymorphism of human plasminogen. Am J Hum Genet 32:681–689

    Google Scholar 

  • Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463–5467

    CAS  PubMed  Google Scholar 

  • Shinmyozu K, Maruyama Y, Osame M, Igata A (1986) Blood coagulation studies in a family with congenital plasminogen abnormality. Jpn J Clin Hematol 27:133–139

    Google Scholar 

  • Skoda U, Bertrams J, Dykes D, Eiberg H, Hobart M, Hummel K, Kühnl P, Mauff G, Nakamura S, Nishimukai H, Raum D, Tokunaga K, Weidinger S (1986) Proposal for the nomenclature of human plasminogen (PLG) polymorphism. Vox Sang 51:244–248

    Google Scholar 

  • Yamaguchi M, Doi S, Yoshimura M (1989) Plasminogen phenotypes in a Japanese population: four new variants including one with a functional defect. Hum Hered 39:356–360

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kikuchi, S., Yamanouchi, Y., Li, L. et al. Plasminogen with type-I mutation is polymorphic in the Japanese population. Hum Genet 90, 7–11 (1992). https://doi.org/10.1007/BF00210737

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00210737

Keywords

Navigation