Common Mutation of Plasminogen Detected in Three Asian Populations by an Amplification Refractory Mutation System and Rapid Automated Capillary Electrophoresis

Asako Ooe; Masafumi Kida; Tomio Yamazaki; Sang-Chul Park; Hideo Hamaguchi; Antonio Girolami; Akitada Ichinose

doi:10.1055/s-0037-1614387

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1999; 82(04): 1342-1346
DOI: 10.1055/s-0037-1614387

Review Article

Schattauer GmbH

Common Mutation of Plasminogen Detected in Three Asian Populations by an Amplification Refractory Mutation System and Rapid Automated Capillary Electrophoresis

Authors

Asako Ooe

¹Dept. of Mol. Biol. Biochem., Seoul National Univ. College of Med., Seoul, Korea
Masafumi Kida

¹Dept. of Mol. Biol. Biochem., Seoul National Univ. College of Med., Seoul, Korea
Tomio Yamazaki

¹Dept. of Mol. Biol. Biochem., Seoul National Univ. College of Med., Seoul, Korea
Sang-Chul Park

¹Dept. of Mol. Biol. Biochem., Seoul National Univ. College of Med., Seoul, Korea
Hideo Hamaguchi

²Dept. of Medical Genetics, Institute of Basic Medical Science, Univ. Tsukuba, Tsukuba, Japan
Antonio Girolami

³Institute of Medical Semiotics, Univ. of Padua Medical School, Padua, Italy
Akitada Ichinose

¹Dept. of Mol. Biol. Biochem., Seoul National Univ. College of Med., Seoul, Korea

Abstract

Summary

Congenital deficiency and dysfunction of plasminogen (PLG) are associated with a mild thrombotic tendency. To facilitate the genetic diagnosis of dysPLGemia, we combined an amplification refractory mutation system and rapid automated capillary electrophoresis. Two different fluorescence-labeled PLG-specific primers for exon XV were designed so that each DNA amplified by PCR showed fluorescence of a different wavelength. Single peaks were detected for the normal and the mutant Ala601-Thr alleles, respectively. A study of 90 normal Caucasians revealed no individuals with the mutation, whereas its gene frequency was 0.021 in Japanese. This mutation was also detected in Korean and Chinese populations at gene frequencies of 0.016 and 0.015, respectively. All of the Korean and Chinese cases with the mutation had at least one haplotype I of the PLG gene, as did most Japanese cases. The high frequency of the Ala601-Thr mutation among these Asian populations may be due to the founder effect.

Full Text

References

References
1 Collen D, Lijnen HR. Basic and clinical aspects of fibrinolysis and thrombolysis. Blood 1991; 78: 3114-24.
2 Blasi F, Vassalli JD, Dano K. Urokinase-type plasminogen activator: proenzyme, receptor, and inhibitors. J Cell Biol 1987; 104: 801-4.
3 Pollanen J, Stephens RW, Vaheri A. Directed plasminogen activation at the surface of normal and malignant cells. Adv Cancer Res 1991; 57: 273-328.
4 Saksela O, Rifkin DB. Cell-associated plasminogen activation: regulation and physiological functions. Ann Rev Cell Biol 1988; 4: 93-126.
5 Moonen G, Grau-Wagemans MP, Selak I. Plasminogen activator-plasmin system and neuronal migration. Nature 1982; 298: 753-5.
6 Romer J, Bugge TH, Pyke C, Lund LR, Flick MJ, Degen JL, Dano K. Impaired wound healing in mice with a disrupted plasminogen gene. Nature Med 1996; 2: 287-92.
7 Carmeliet P, Moons L, Ploplis V, Plow E, Collen D. Impaired arterial neointima formation in mice with disruption of the plasminogen gene. J Clin Invest 1997; 99: 200-8.
8 Xiao Q, Danton MJ, Witte DP, Kowala MC, Valentine MT, Bugge TH, Degen JL. Plasminogen deficiency accelerates vessel wall disease in mice predisposed to atherosclerosis. Proc Natl Acad Sci USA 1997; 94: 10335-40.
9 Tsirka SE, Bugge TH, Degen JL, Strickland S. Neuronal death in the central nervous system demonstrates a non-fibrin substrate for plasmin. Proc Natl Acad Sci USA 1997; 94: 9779-81.
10 Ploplis VA, French EL, Carmeliet P, Collen D, Plow EF. Plasminogen deficiency differentially affects recruitment of inflammatory cell populations in mice. Blood 1998; 91: 2005-9.
11 Schuster V, Mingers AM, Seidenspinner S, Nussgens Z, Pukrop T, Kreth HW. Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. Blood 1997; 90: 958-66.
12 Drew AF, Kaufman AH, Kombrinck KW, Danton MJ, Daugherty CC, Degen JL, Bugge TH. Ligneous conjunctivitis in plasminogen-deficient mice. Blood 1998; 91: 1616-24.
13 Girolami A, Sartori MT, Saggiorato G, Sgarabotto D, Patrassi GM. Symptomatic versus asymptomatic patients in congenital hypoplasminogenemia: a statistical analysis. Haematologia 1994; 26: 59-65.
14 Tsutsumi S, Saito T, Sakata T, Mlyata T, Ichinose A. Genetic diagnosis of dysplasminogenemia: detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation. Thromb Haemost 1996; 76: 135-8.
15 Ichinose A, Espling ES, Takamatsu J, Saito H, Shinmyozu K, Maruyama I, Petersen TE, Davie EW. Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis. Proc Natl Acad Sci USA 1991; 88: 115-9.
16 Murata M, Ooe A, Izumi T, Nakagawa M, Takahashi S, Ishikawa M, Mori K, Ichinose A. Ala601-Thr type dysplasminogenaemia genetically diagnosed in patients with retinochoroidal vascular disorders. Brit J Haematol 1997; 99: 301-3.
17 Kida M, Wakabayashi S, Ichinose A. Expression and induction by IL-6 of the normal and variant genes for human plasminogen. Biochem Biophys Res Commun 1997; 230: 129-32.
18 Petersen TE, Martzen MR, Ichinose A, Davie EW. Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system. J Biol Chem 1990; 265: 6104-11.
19 Kida M, H.-Kawabata M, Yamazaki T, Ichinose A. Presence of two plasminogen alleles in normal populations. Thromb Haemost 1998; 79: 150-4.
20 Ichinose A. Multiple members of the plasminogen-apolipoprotein(a) gene family associated with thrombosis. Biochemistry 1992; 31: 3113-8.
21 Ichinose A, Kuriyama M. Detection of polymorphisms in the 5’-flanking region of the gene for apolipoprotein(a). Biochem Biophys Res Commun 1995; 209: 372-8.
22 Suzuki K, Kuriyama M, Saito T, Ichinose A. Plasma lipoprotein(a) levels and expression of the apolipoprotein(a) gene are dependent on the nucleotide polymorphisms in its 5’-flanking region. J Clin Invest 1997; 99: 1361-6.
23 Aoki N, Tateno K, Sakata Y. Differences of frequency distributions of plasminogen phenotypes between Japanese and American populations: new methods for the detection of plasminogen variants. Biochem Genet 1984; 22: 871-81.
24 Li L, Kikuchi S, Arinami T, Kobayashi K, Tsuchiya S, Hamaguchi H. Plasminogen with type-I mutation in the Chinese Han population. Clinl Genet 1994; 45: 285-7.
25 Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nuc Acid Res 1989; 17: 2503-16.
26 Engel H, Zwang L, van Vliet HH, Michiels JJ, Stibbe J, Lindemans J. Phenotyping and genotyping of coagulation factor V Leiden. Thromb Haemost 1996; 75: 267-9.
27 Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988; 239: 487-91.
28 Kikuchi S, Yamanouchi Y, Li L, Kobayashi K, Ijima H, Miyazaki R, Tsuchiya S, Hamaguchi H. Plasminogen with type-I mutation is polymorphic in the Japanese population. Hum Genet 1992; 90: 7-11.
29 Robbins KC. Dysplasminogenemias. Enzyme 1988; 40: 70-8.
30 Shigekiyo T, Uno Y, Tomonari A, Satoh K, Hondo H, Ueda S, Saito S. Type I congenital plasminogen deficiency is not a risk factor for thrombosis. Thromb Haemost 1992; 67: 189-92.
31 Tait RC, Walker ID, Conkie JA, Islam SI, McCall F. Isolated familial plasminogen deficiency may not be a risk factor for thrombosis. Thromb Haemost 1996; 76: 1004-8.
32 Biasiutti FD, Sulzer I, Stucki B, Wuillemin WA, Furlan M, Lammle B. Is plasminogen deficiency a thrombotic risk factor? – A study on 23 thrombophilic patients and their family members. Thromb Haemost 1998; 80: 167-70.