Genetic and Phenotypic Polymorphisms of the A Subunit of Coagulation Factor XIII in Japanese Population

Biochemical Genetics - 2002
Masato Taniguchi1, Tokiyoshi Ayabe1, Toshifumi Ashida1, Yoshinori Fujimoto1, Yutaka Kohgo1
1Third Department of Internal Medicine, Asahikawa Medical College, Asahikawa, Japan

Tóm tắt

To clarify whether genetic polymorphisms in exon 14 of Coagulation factor XIII A-subunit gene (FXIIIA) affect phenotype expressions, we studied genetic polymorphisms in exon 14 of FXIIIA in a Japanese population and the relationship between the genetic polymorphisms and phenotype expression. Genetic polymorphisms in exon 14 of FXIIIA of 144 unrelated Japanese were analyzed by single-strand conformation polymorphism. Plasma FXIIIA antigen concentrations, FXIII activities, and phenotype were also determined by two-dimensional electrophoresis. The frequencies of the three genotypes, the homozygote (AD), the homozygote (BC) and the heterozygote (AD/BC), were 77.1, 0.7, and 22.2%, respectively. The gene frequencies of AD and BC were 0.88 and 0.12. We detected AD (GTTand BC (ATTat codon 650 and 651 of exon 14. There were no significant differences of FXIIIA antigen concentrations and FXIII activities between these genotypes. We detected three pl differences among them as being pls of 5.3, 5.6, 5.8 in the homozygote (AD) and the heterozygote (AD/BC), and a pl of 5.8 in the homozygote (BC). These polymorphisms affected isoelectric mobility, but did not affect protein levels, enzyme activities, or the molecular weight of FXIII.

Từ khóa


Tài liệu tham khảo

Aslam, S., Poon, M.-C., Yee, V. C., Bowen, D. J., and Standen, G. (1995). A candidate missense mutation (Leu667-Pro) in the beta barrel 2 domain of the factor XIIIA subunit. Br. J. Haematol. 91:452.

Board, P. (1979). Genetic polymorphism of the A subunit of human coagulation factor XIII. Am. J. Hum. Genet. 31:116.

Board, P., Coggan, M., and Miloszewski, K. (1992). Identification of a point mutation in factor XIII A subunit deficiency. Blood 80:937.

Brody, J. A., Hussels, I., Brink, E., and Torres, J. (1970). Hereditary blindness among pingelapese people of eastern caroline islands. Lancet 13:1253.

Carrell, N. A., Ericson, H. P., and Mcdonagh, J. (1989). Electronmicroscopy and hydrodynamic properties of factor XIII subunits. J. Biol. Chem. 264:551.

Coggan, M., Baker, R., Miloszewski, K., Woodfield, G., and Board, P. (1995). Mutations causing coagulation factor XIII subunit A deficiency; Characterization of the mutant proteins after expression in yeast. Blood 85:2455.

Dieterich, W., Ehnis, T., Bauer, M., Donner, P., Volta, U., Riecken, E. O., and Schuppan, D. (1997). Identification of tissue transglutaminase as the autoantigen of celiac disease. Nat. Med. 3:797.

Dykes, D. D., and Polesky, H. F. (1985). FXIIIA phenotyping by isoelectric focusing and immunoblotting: Gene frequencies in a population of US White and Blacks. Electrophoresis 521.

Grundman, U., Amann, E., Zettlmeissl, G., and Kupper, H.A. (1986). Characterization of cDNAcoding for human factor XIIIa. Proc. Natl. Acad. Sci. U.S.A. 83:8024.

Ichinose, A., Bottenus, R. E., and Davie, E. W. (1990). Structure of transglutaminases. J. Biol. Chem. 5:13411.

Ichinose, A., and Davie, E. W. (1988). Characterization of the gene for the A subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc. Natl. Acad. Sci. U.S.A. 85:5829.

Inbal, A., Yee, V. C., Kornbrot, N., Zivelin, A., Brenner, B., and Seligsohn, U. (1997). Factor XIII defi-ciency due to a leu660Pro mutation in the factor XIII subunit-a gene in three unrelated palestinian Arab Families. Thromb. Haemost. 77:1062.

Kamura, T., Okamura, T., Murakawa, M., Tsudo, H., Teshima, T., Shibuya, T., Harada, M., and Niho, Y. (1992). Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at 5'end of Exon III. J. Clin. Invest. 90:315.

Kangsadalampai, S., Farges-Berth, A., Caglayan, S. H., and Board, P. G. (1996). New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII. Thromb. Haemost. 76:139.

Karl, F., Aab, A., and Stuber,W. (1991).Aphotometric assay for blood coagulation factor XIII. Thromb. Haemost. 65:535.

Kera, Y., and Nishimukai, H. (1982). Genetic polymorphism of the A subunit of human coagulation factor XIII in Japanese. Hum. Hered. 32:216.

Kohler, H. P., Stickland, M. H., Ossei-Gerning, N., Carter, A., Mikkola, H., and Grant, P. J. (1998). Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb. Haemost. 79:8.

Mikkola, H. (1994). Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels. Blood 84:2517.

Mikkola, H., Yee, V. C., and Syrja, M. (1996). Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A subunit. Blood 87:141.

O'Farrell, P. H. (1975). High resolution two-dimensional electrophoresis of proteins. J. Biol. Chem. 250:4007.

Ohta, T. (1982). Linkage disequilibrium due to random genetic drift in finite subdivided populations. Proc. Natl. Acad. Sci. U.S.A. 79:1940.

Orita, M. (1989). Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphism. Proc. Natl. Acad. Sci. U.S.A. 86:2766.

Saiki, R. K., Gelfand, D. H., Stoffel, S., Sharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., and Erlich, H. A. (1988). Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487.

Sambrook, J., Fritsch, E. F., and Maniatis, T. (1982). Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY p. 9.16.

Sanger, F. (1977). DNA sequencing with chainterminating. Proc. Natl. Acad. Sci. U.S.A. 74:5463.

Schwartz, M. L., Pizzo, S. V., Hill, R. L., and Mckee, P. A. (1973). Human factor XIII from plasma and platelets. J. Biol. Chem. 248:1359.

Suzuki, K., Henke, J., Iwata, M., Henke, L., Tsuji, H., Fukunaga, T., Ishimoto, G., Szekelyi, M., and Ito, S. (1996). Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene. Hum. Genet. 98:393.

Suzuki, K., Matsui, K., Ito, S., Fujita, K., and Matsumoto, H. (1988). Polymorphism of the A subunit of coagulation factor XIII: Evidence for subtypes of the FXIIIA¤1 and FXIIIA¤2 alleles. Am. J. Hum. Genet. 43:170.

Takahashi, N., Takahashi, K., and Putnam, F. (1986). Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta. Proc. Natl. Acad. Sci. 83:8019.

Zhang, L., Stradmann-Bellinghausen, B., Schneider, P. M., and Rittner, C. (1993). Genetic polymorphisms of the A and B subunits of coagulation factor XIII in the Chinese population. Exp. Clin. Immunogenet. 10:137.

Thông tin
Thông tin xuất bản

Biochemical Genetics

Thông tin tác giả