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1999 Fiscal Year Final Research Report Summary

Molecular analysis of Genetic Polymorphisms in Blood and Development of Primers for Genotyping

Research Project

Project/Area Number 09557038
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field Legal medicine
Research InstitutionTottori University

Principal Investigator

YUASA Isao  Department of Legal Medicine, Faculty of Medicine, Tottori University, Assistant Professor, 医学部, 講師 (00093633)

Co-Investigator(Kenkyū-buntansha) IKEBUSHI Jun  Department of Legal Medicine, Faculty of Medicine, Tottori University, Research Associate, 医学部, 助手 (30150361)
UMETSU Kazuo  Department of Forensic Medicine, Yamagata University School of Medicine, Associate Professor, 医学部, 助教授 (10091828)
Project Period (FY) 1997 – 1999
KeywordsRed cell antigen types / Serum protein types / Red cell enzyme types / Nucleotide sequences / DNA polymorphisms / Primers / Paternity tests
Research Abstract

In this projects we have investigated the molecular bases of classical genetic markers in blood to propose simple and rapid genotyping methods. We analyzed (1)ABO, RH and Diego blood group systems as red cell antigens, (2)orosomucoid (alpha-1-acid glycoprotein), group-specific component, inter-alpha-trypsin inhibitor, the R subcomponent of the first component of component, the seventh component of complement, alpha-1-antitrypsin, and the B unit of coagulation factor XIII as serum proteins (3)phosphoglucomutase 1, eaterase D, DNase 1, acetaldehyde dehydrogenase 2, and phosphomannomutase 2 as red cell and other cell enzymes. We also analyzed some null alleles (ORM1ィイD1*ィエD1Q0koln and ITIH1ィイD1*ィエD1Q0iwate), which could cause a false incompatibility between father and child. A nucleotide substitution of de novo mutation, observed in the group-specific component in a German paternity case, was determined. The findings obtained in this study will be useful not only in forensic science but also biological and medical sciences.

  • Research Products

    (39 results)

All Other

All Publications (39 results)

  • [Publications] Watanabe, G.: "Amplified product length, polymorphism, (APLP) : a novel strategy for genotyping the ABO blood group"Human Genetics. 99. 34-37 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yuasa, I.: "Human orosomucoid polymorphism : molecular basis of the three common ORM1 alleles, ORM1^*F1, ORM1^*F2, and ORM1^*S"Human Genetics. 99. 397-398 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Nakayashiki, N.: "ITIH1^*Q0 imate, a null allele of inter alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation"Japanese Journal of Human Genetics. 42. 363-368 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yuasa, I.: "Simple and rapid determination of the acetaldehyde dehydrogenase (ALDH2) genotypes by nonradioactive single-strand conformation polymorphism analysis"Electrophoresis. 18. 1940-1941 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Weidinger, S.: "Detection of a de novo mutation in the GC system by DNA sequence analysis"Progress in Forensic Haemogenetics. 7. 240-242 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Nakamura, H.: "Molecular analysis of human orosomucoid gene : ORM1^*Q0 Koln responsible for the incompatibility in a German paternity case"International Journal of Legal Medicine. (印刷中).

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] G.Watanabe, K.Umetsu, I.Yuasa, T.Suzuki: "Amplified product length polymorphism (APLP) : a novel strategy for genotyping the ABO blood group"Human Genetics. 99(1). 34-37 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.M.Sebetan, S.Oshida, I.Yuasa: "Genetic polymorphisms of orosomucoid ORM1 and ORM2 in Egyptians, Sudanese, and Qataris : occurrence of two new alleles"Human Biology. 69(1). 121-129 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, U.Vogt, H.Nakamura, E.Nanba, N.Tamaki, Y.Irizawa: "Human orosomucoid polymorphism : molecular basis of the three common ORM1 alleles, ORM1ィイD1*ィエD1F1, ORMィイD1*ィエD1F2, and ORM1ィイD1*ィエD1S"Human Genetics. 99(3). 393-398 (1997)

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  • [Publications] Y.Murawaki, H.Sugisaki, I.Yuasa, H.Kawasaki: "Serum carbohydrate deficient transferrin in patients with nonalcoholic liver disease and with hepatocellular carcinoma"Clinica Chimica Acta. 259(1-2). 97-108 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] T.Yasuda, H.Takeshita, R.Iida, I.Yuasa, K.Kishi: "Population studies of human deoxyribonuclease I polymorphism"Human Heredity. 47(3). 121-124 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] N.Nakayashiki, M.Ding, K.Umetsu, I.Yuasa, T.Suzuki, Y.Aoki: "ITIH1ィイD1*ィエD1Q0ィイD2iwateィエD2, a null allele of inter-alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation"Japanese Journal of Human Genetics. 42(2). 363-368 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] G.Watanabe, K.Umetsu, I.Yuasa, U.Vogt, T.Suzuki: "Nucleotide substitution in the 5'flanking region of D1S80 locus"Forensic Science International. 89(1-2). 75-80 (1997)

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      「研究成果報告書概要(欧文)」より
  • [Publications] R.Iida, T.Yasuda, M.Aoyama, E.Tsubota, M.Kobayashi, I.Yuasa, T.Matsuki, K.Kishi: "The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism"Electrophoresis. 18(11). 1936-1939 (1997)

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      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, M.Nakagawa, J.Ikebuchi, T.Inoue, Y.Irizawa: "Simple and rapid determination of the acetaldehyde dehydrogenase (ALDH2) genotypes by nonradioactive single-strand conformation polymorphism analysis"Electrophoresis. 18(11). 1940-1941 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Y.Tomie, Y.Horie, F.Tajima, S.Kitaoka, E.Nanba, I.Yuasa, H.Kawasaki: "Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria"Research Communications in Molecular Pathology and Pharmacology. 99(1). 5-15 (1998)

    • Description
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  • [Publications] T.Aoshima, K.Umetsu, I.Yuasa, G.Watanabe, T.Suzuki: "Simultaneous genotyping of alcohol dehydrogenase 2 (ADH2) and aldehyde dehydrogenase (ALDH2) loci by amplified product length polymorphism (APLP) analysis"Electrophoresis. 19(5). 659-660 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] G.Watanabe, K.Umetsu, I.Yuasa, T.Suzuki: "Simultaneous determinations of STR polymorphism and a new nucleotide substitution in its flanking region at the CD4 locus"Journal of Forensic Sciences. 43(4). 733-737 (1998)

    • Description
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  • [Publications] K.Akaba, T.Kimura, A.Sasaki, S.Tanabe, T.Ikegami, M.Hashimoto, H.Umeda, H.Yoshida, K.Umetsu, H.Chiba, I.Yuasa, K.Hayasaka: "Neonatal hyperbillirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene : a common missense mutation among Japanese, Korean and Chinese"Biochemistry and Molecular Biology International. 46(1). 21-26 (1998)

    • Description
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  • [Publications] S.Ichisaka, K.Ohno, I.Yuasa, E.Nanba, H.Sakuraba, Y.Suzuki: "Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I"Brain and Development. 20(5). 302-306 (1998)

    • Description
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  • [Publications] K.Ago, I.Yuasa, O.Tsuganezawa: "Transferrin polymorphism in the Nansei Islands : Description of a new variant TF Dama and clines of allele frequencies in Japanese populations"Anthropological Science. 106(3). 209-219 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ago, I.Yuasa, O.Tsuganezawa: "Distribution of group-specific component/vitamin D-binding protein alleles in Southwestern Japan and geographical clines of allele frequencies in Japanese populations"Anthropological Science. 106(4). 385-395 (1998)

    • Description
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  • [Publications] I.Kondo, K.Mizugishi, Y.Yoneda, T.Hashimoto, K.Kuwajima, I.Yuasa, K.Shigemoto, Y.Kuroda: "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1"Clinical Genetics. 55(1). 50-54 (1999)

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      「研究成果報告書概要(欧文)」より
  • [Publications] H.Zhang, T.Yamamoto, E.Nanba, Y.Kitamura, T.Terada, S.Akaboshi, I.Yuasa, K.Ohtani, S.Nakamoto, K.Takeshita: "Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis : lack of loss of heterozygosity in a lung cyst"American Journal of Medical Genetics. 82(59. 368-370 (1999)

    • Description
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  • [Publications] M.Nakagawa, I.Yuasa, K.Umetsu, Y.Irizawa: "A new single-nucleotide polymorphism in the seventh components of complement (C7) gene"Journal of Human Genetics. 44(4). 272-273 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Mizugishi, K.Yamanaka, K.Kuwajima, I.Yuasa, K.Shigemoto, I.Kondo: "Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I"Brain and Development. 21(3). 223-228 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Yoshikawa, K.Umetsu, H,Shinzawa, I.Yuasa, K.Maruyama, T.Ohkura, K.Yamashita, T.Suzuki: "Determination of carbohydrate-deficient transferrin separated by lectin affinity chromatography for detecting chronic alcohol abuse"FEBS Letter. 458(2). 112-116 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] G.Watanabe, K.Umetsu, I.Yuasa, T.Suzuki: "Improved haplotype analysis of human myelin basic protein (MBP) STR loci"Human Biology. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] G.Watanabe, K.Umetsu, I.Yuasa, T.Suzuki: "DXS10011 : a hypervariable tetranucleotide STR polymorphism on the X chromosome"International Journal of Legal Medicine. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] E.Naito, K.Umetsu, I.Yuasa, K.Dewa, H.Sumi, H.Yamanouchi: "A novel dimorphism in the human SRY gene : usefulness in human migration study"International Journal of Legal Medicine. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] H.Nakamura, I.Yuasa, K.Umetsu, J.Henke, L.Henke, E.Nanba: "Molecular analysis of human orosomucoid gene : ORM1ィイD1*ィエD1Q0ィイD2kolnィエD2 responsible for the incompatibility in a German paternity case"International Journal of Legal Medicine. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] H.Nishimukai, Y.Fukumori, T.Okiura, I.Yuasa: "Genotyping of the ABO blood group system by PCR-based methods. Advances in Research on DNA Polymorphism (ISFH Hakone Symposium Program on Committee, ed.)"TOYOSHOTEN, Tokyo. 369-373 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, N.Tamaki, Y.Irizawa: "Molecular basis of orosomucoid-1 polymorphism. Advances in Research on DNA Polymorphism (ISFH Hakone Symposium Program on Committee, ed.)"TOYOSHOTEN, Tokyo. 387-391 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] S.Weidinger, I.Yuasa, M.Schroder, A.G.Gathof: "Detection of a de novo mutation in the GC system by DNA sequence analysis. Progress in Forensic Haemogenetics (B. Olaisen, B. Brinkmann, and P. J. Lincoln, ed.), vol.7"ELSEVIER, Netherland. 240-242 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ago, O.Tsuganezawa, I.Yuasa: "TF polymorphism in the southwestern part of Japan and geographical clines of TF allele frequencies in Japanese populations. 6th Indo-Pacific Congress on Legal Medicine and Forensic Sciences (Y.Tatsuno, ed.)"917-920 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] H.Nakamura, I.Yuasa, K.Umetsu, J.Henke: "Molecular basis of a hybrid allele ORM2ィイD1*ィエD1L7 and a silent allele ORM1ィイD1*ィエD1Q0. 6th Indo-Pacific Congress on Legal Medicine and Forensic Sciences (Y.Tatsuno, ed.)"929-932 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Umetsu, G.Watanabe, I.Yuasa, K.Ago, N.Nakayashiki, A.Miyoshi, S.Kashimura: "Haplotype distribution of four Y-chromosome STR loci in the East Asian populations. Progress in Forensic Haemogenetics (G. F. Sensabaugh, B. Brinkmann, and P. J. Lincoln, ed.), vol.8"(in press), ELSEVIER, Netherland.

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ago, I.Yuasa, K.Umetsu, O.Tsuganezawa: "Inter-alpha-trypsin inhibitor polymorphism in Southwestern Japan : Geographical clines allele frequencies in Japanese populations. Progress in Forensic Haemogenetics (G. F. Sensabaugh, B. Brinkmann, and P. J. Lincoln, ed.), vol.8"(in press), ELSEVIER, Netherland.

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] I.Yuasa, K.Umetsu, E.Naito, A.Miyoshi, K.Ago, Y.Irizawa: "Distribution of a C-to-T polymorphism in the sex-determining region Y (SRY) gene. Progress in Forensic Haemogenetics (G. F. Sensabaugh, B. Brinkmann, and P. J. Lincoln, ed.), vol.8"(in press), ELSEVIER, Netherland.

    • Description
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Published: 2001-10-23  

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