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Establishment of decision supporting system for genetic abnormalities in laboratory medicine.

Research Project

Project/Area Number 05454583
Research Category

Grant-in-Aid for General Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Laboratory medicine
Research InstitutionHamamatsu University, School of Medicine.

Principal Investigator

KANNO Takashi  Hamamatsu University, School of Medicine Laboratory Medicine Professor, 医学部, 教授 (70051406)

Co-Investigator(Kenkyū-buntansha) YONEKAWA Osamu  Hamamatsu University Clinical Laboratories Assistant, 医学部附属病院, 助手 (90158527)
前川 眞人 (前川 真人)  浜松医科大学, 医学部, 助手 (20190291)
Project Period (FY) 1993 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥7,100,000 (Direct Cost: ¥7,100,000)
Fiscal Year 1995: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1994: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1993: ¥4,700,000 (Direct Cost: ¥4,700,000)
KeywordsLactate dehydrogenase / Butyrylcholinesterase / Enzyme deficiencies / Genetic mutation / Laboratory Medicine. / 遺伝性変異 / M-サブユニット / H-サブユニット / TXI因子 / 酸素欠損症 / データベース / システム化 / サイレント型遺伝子 / 人類遺伝学 / コンピューター診断
Research Abstract

The detection of non symptomatic but high risk genetic abnormalities is one of the most important task for laboratory physicians. These abnormalities were sometimes picked up from observation of laboratory data in details. However, systematic rules for the detection of these abnormalities have not been established today. In this study, we established several algorithm to detect these genetic mutations from routine laboratory data. The detection system for plasma butyrylcholinesterase (Bcho) abnormalities effectively began to work. The system extracted more than 40 cases of genetic abnormalities of Bcho, including newly found 3 different types of genetic mutation employing PCRSSCP methods. L3301 and G365R mutation are relatively popular mutations in Japanese population and the frequency of K variant is as same as that in European population. The detection rule for the lactate dehydrogenase subunits abnormalities were not so effective but precise observation of laboratory data made it possible to detect the genetic abnormalities of LD subunits. Four different mutation site were elucidated by genomic analysis.
Finally we summarized the heterogeneities of genetic mutation of LD subunits and Bcho. Laboratory data of the patients with these abnormalities and mutation site of these patients were entry into our laboratory files of Hamamatsu University Hospital Information System and will be opened for scientific network to support laboratory physicians.

Report

(4 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • 1993 Annual Research Report
  • Research Products

    (29 results)

All Other

All Publications (29 results)

  • [Publications] Maekawa,M.Sudo K Kanmo T.: "Search for lmproued Electrophoretic Cauclitions for PCR-Singlc Strand Confovmation Polymovphism Analysis" PCR-Meihod and applications. 3. 130-132 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maekawa,M.Sudo,K Kanno,T.: "Population screening of Laetate Dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutation in LDH(H) gene" Humam Genet.93. 74-76 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maekawa M.Sudo K.Kanno T.Takayasu S et al: "A novel deletion mutation of Lactate dehydrogenase A(M)gene in the fifth family with the enzyme deficiency" Human molecular genetics. 3. 825-826 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Izumi M.Maekawa M Kanno T: "Butyrylcholinesterase K-Variant Japan : Foequeucy og of Allele and Assouotod Euqyme activity in serum." clinical chemistry. 40. 1606-1607 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanno T.Maekawa M.: "Lactate Dehydrogenase M-subumit Deficiency clivical features, metabobicback graund and Genetic Heterogeueities." Muscle & N/cvce supple. 95 supple. S54-S60 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 菅野剛史: "臨床的視点そのアイソザイムに対する概念" 日本臨床. 53. 1063-1068 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 菅野剛史: "本邦臨床統計集(下)先天性乳酸脱水素酵素サブユニット欠損症" 日本臨床, 2150 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 菅野剛史: "遺伝子病マニュアルLDH-Mサブユニット欠損症" 中山書店, 850 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maekawa M.Sudo K.Kanno t.: "Search for improved Electrophoretic conditions for PCR single strange conformation polymorphism analysis." PCR Methods and Application. 6. 130-132 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maekawa M.Sudo, K.& Kanno T.: "Population screening of lactate dehydrogenase deficient-cies in Fukuoka prefecture in Japan and molecular characterization of three independent mutation in LDH (H) gene." Human genetics. 93. 74-76 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Maekawa M.Sudo K.Kanno T : Takayasu S.: "A novel deletion mutation of lactate dehydrogenase A (M) gene the fifth families in the fifth families with the enzyme deficiency." Human Molecular Genet.3. 825-826 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Izumi M.Maekawa M.Kanno T: "Butyrylcholinesterase k-variant in Japan ; Frequency of alle and associated enzyme activity in serum." Clinical Chem.40. 1606-1607 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanno T.Maekawa M.: "Lactate dehydrogenase M-subunit deficiencies ; Clinical feature, metabolic background and genetic heterogeneities." Muscle and Nerve suppl.95 suppl.s54-s60 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanno T.: "Concept of Isozyme in the field of clinical application" Nihon Rinsyo. 53. 163-1068 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanno T.: Clinical Data in Japan. Lactate dehydrogenase subunit deficiencies.Nihon Rynsho suppl., (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kanno T.: Manuals for genetic diseases. Lactate dehydrogenase M-subunit deficiency.Nakayama Co.Ltd. Ed. by Tada K.and Tarui K., (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] T.Kanno: "Lactate De hydrogenase M-subunit De-ficiencies: clinical features, metababac back greund. and geuetes Heterogeuetes" Muscle and Nerve. suppl.S54-S60 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] T.Kanno et al.: "Image-Oriented Rule generating Tool for Medial Knowlege Base" Medinfo '95. 95. 959-963 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 近藤光,菅野剛史: "検査部のDiuck Turnagound Time" 臨床病理. 43. 1038-1043 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] M.Maekawa: "genetic basis of the silent pheus type of serum butyrul-cholinesterase in three compound beferogygotes" Clin. Chim Acta. 235. 41-57 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] T.Kanno: "Lactate Dehydrogenase M-subumit Deficiency.clivical features,metabobicback graund and Genetic Heterogeueities." Muscle and Nerve. (in press). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] M.Izumi: "Butyrylcholinesterase K-Variant in Japan:Foequeucy og of Allele and Assouotod Euqyme activity in serum." Cliu.Chem. 40. 1606-1607 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 宮嶋 裕明: "家族性セルロプラスミン欠損症における体内の過除鉄沈着" 神経内科. 41. 48-54 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Dilip.C.Dey: "血清コリンエステラーゼの表現型解析から遺伝型へ" 臨床化学 supp2. 23. 1006 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 前川 眞人: "低コリンエステラーゼ血症例における変異遺伝子の解析" 生物物理化学. 38. 201-208 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] M.Maekawa: "Heterogouesties of genetos Mutetion in Human Laetate Dehydougenase Gene:" Eusopian.J.of Lob.Medicine. (in press). (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 前川 真人: "Slow型乳酸脱水素酵素B(H)サブユニットバリアントの遺伝子解析" 生物物理化学. 38. 25-29 (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] 前川 真人: "Single strand conformation polymorphism(SSCP)パターンに及ぼす泳動条件の影響" 生物物理化学. 38(印刷中). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] 前川 真人: "低コリンエステラーゼ血症例における変異遺伝子の解析" 生物物理化学. 38(印刷中). (1994)

    • Related Report
      1993 Annual Research Report

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Published: 1993-04-01   Modified: 2016-04-21  

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