• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

小児科領域における遺伝子多型に基づいたオーダーメイド医療の構築

Research Project

Project/Area Number 17659308
Research Category

Grant-in-Aid for Exploratory Research

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

松原 洋一  東北大学, 大学院医学系研究科, 教授 (00209602)

Co-Investigator(Kenkyū-buntansha) 呉 繁夫  東北大学, 大学院医学系研究科, 助教授 (10205221)
Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥3,300,000 (Direct Cost: ¥3,300,000)
Fiscal Year 2006: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2005: ¥2,000,000 (Direct Cost: ¥2,000,000)
Keywordsファーマコゲノミクス / 薬理遺伝学 / 遺伝子診断 / テーラーメード医療 / 小児科診療 / ベッドサイド / 遺伝子検査 / 遺伝子多型 / オーダーメイド医療
Research Abstract

ゲノム研究の進展に伴い、薬物動態、薬効、副作用発現等の個人差が薬物代謝酵素や薬物標的分子等の遺伝子多型に起因することが明らかになってきた。特に遺伝子上の一塩基多型(SNP)診断は、薬物投与前に患者の薬剤反応性を予測する上で大いに期待されている。本研究の目的は、小児科領域に関連の深い遺伝子多型を対象に、わたしたちが開発した画期的な簡易ベッドサイド遺伝子診断法を用いて、個別化薬物療法(オーダーメイド医療)が実施できる体制を構築することにある。本研究の中心となる新しい遺伝子診断法(CASSOH法:Competitive Allele-Specific Oligonucleotide Hybridization)は、検体を採取後、PCR反応をおこない、反応液をスポットしたイムノクロマト試験紙上に現れる紫色の判定線によって、肉眼的に遺伝子変異・多型の有無を判定する独自の手法である。本年度は、前年度に引き続いて、薬理学的遺伝子多型のうち日本人集団で臨床的な有用性が高いものを選定した。また、血液より侵襲の少ない検体を用いた遺伝子診断法について検討を行なうとともに、遺伝子増幅段階の高速化を検討した。次に、日本人集団で臨床的な有用性が高い薬理学的遺伝子多型それぞれについて、CASSOH法を用いた簡易遺伝子診断法の確立をおこなった。この際、一般病院の検査室における使用を想定して、キット化を試みるとともに、臨床検査としての評価をあわせて行なった。本研究において達成された遺伝子検査法は、小児科領域におけるオーダーメイド医療に基づいた薬害予防のための検査法として有用と思われる。

Report

(2 results)
  • 2006 Annual Research Report
  • 2005 Annual Research Report
  • Research Products

    (19 results)

All 2006 2005

All Journal Article (18 results) Book (1 results)

  • [Journal Article] Competitive allele-specific short oligonucleotide hybridization (CASSOH) with enzyme-linked immunosorbent assay (ELISA) for the detection of pharmacogenetic single nucleotide polymorphisms (SNPs)2006

    • Author(s)
      Hiratsuka M ほか
    • Journal Title

      J Biochem Biophys Methods 67

      Pages: 87-94

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome2006

    • Author(s)
      Niihori Tほか
    • Journal Title

      Nature Genet 38

      Pages: 294-296

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension2006

    • Author(s)
      del Toro Mほか
    • Journal Title

      Ann Neurol 60

      Pages: 148-152

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test2006

    • Author(s)
      Kure Sほか
    • Journal Title

      Ann Neurol 59

      Pages: 862-867

    • Related Report
      2006 Annual Research Report
  • [Journal Article] A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation2006

    • Author(s)
      Kamada Fほか
    • Journal Title

      J Hum Genet 51

      Pages: 455-460

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia2006

    • Author(s)
      Kure Sほか
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.2006

    • Author(s)
      Niihori, T. et al.
    • Journal Title

      Nat Genet 38

      Pages: 294-296

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.2006

    • Author(s)
      Kure, S. et al.
    • Journal Title

      Hum Mutat 27

      Pages: 343-352

    • Related Report
      2005 Annual Research Report
  • [Journal Article] De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cells2006

    • Author(s)
      Sato, K. et al.
    • Journal Title

      Brain Res 1071

      Pages: 24-33

    • Related Report
      2005 Annual Research Report
  • [Journal Article] ERAS mutation analysis in Costello syndrome : genotype and phenotype correlation.2006

    • Author(s)
      Gripp, K.W.et al.
    • Journal Title

      Am J Med Genet A 140

      Pages: 1-7

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Germline mutations in URAS proto-oncogene cause Costelle syndrome.2005

    • Author(s)
      Aoki, Y. et al.
    • Journal Title

      Nat Genet 37

      Pages: 1038-1040

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation2005

    • Author(s)
      Flusser, H. et al.
    • Journal Title

      Neurology 64

      Pages: 1426-1430

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Glycine decarboxylase mutations : a distinctive phenotype of nonketotic hyperglycinemia in adults.2005

    • Author(s)
      Dinopoulos, A. et al.
    • Journal Title

      Neurology 64

      Pages: 1255-1257

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.2005

    • Author(s)
      Niihori, T. et al.
    • Journal Title

      J Hum Genet 50

      Pages: 192-202

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Atypical variants of nonketotic hyperglycinemia.2005

    • Author(s)
      Dinopoulos, A et al.
    • Journal Title

      Mol Genet Metab 86

      Pages: 61-69

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.2005

    • Author(s)
      Otomo, J. et al.
    • Journal Title

      J Cardiovasc Electrophysiol 16

      Pages: 137-145

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Mutations in the holocarboxylase synthetase gene HLCS.2005

    • Author(s)
      Suzuki, Y. et al.
    • Journal Title

      Hum Mutat 26

      Pages: 285-290

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Adult Alexander's disease without leukoencephalopathy.2005

    • Author(s)
      Salvi, F. et al.
    • Journal Title

      Ann Neurol 58

      Pages: 813-814

    • Related Report
      2005 Annual Research Report
  • [Book] シグナル伝達病を知る : その分子機序解明から新たな治療戦略まで2006

    • Author(s)
      青木洋子, 松原洋一
    • Total Pages
      328
    • Publisher
      メディカルドゥ
    • Related Report
      2006 Annual Research Report

URL: 

Published: 2005-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi