Using microarray analysis to evaluate genetic polymorphisms involved in the metabolism of environmental chemicals (油症とPCB及びダイオキシン関連化合物に関する研究報告集(第21集)) Using Microarray Analysis to Evaluate Genetic Polymorphisms Involved in the Metabolism of Environmental Chemicals

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Abstract

近年,一遺伝子多型(SNPs)に由来する個々の感受性を包括的に評価する方法が必要とされている.ヒト遺伝子におけるSNP は,遺伝的な疾患,特定の疾病に対する感受性,癌などの素因のひとつとして考えられている.そのため,迅速で正確なSNPs判定法が求められている.本研究では,環境化学物質代謝に関与する遺伝子多型を判定するためのDNA マイクロアレイを開発し,その効力と信頼性を380人の日本人妊婦の血液を用いて,日本人で変異型.度の高い9遺伝子13多型について検討した.CYP1A1 I462V,CYP1B1 L432V,GSTP1 I105V,AhR R554K 遺伝子多型に対する検出力は98%以上の値を示すとともに,リアルタイムPCR 法による結果との比較による信頼度(κ係数)は,高い値を示した(それぞれ,0.98(0.96),0.97(0.93),0.90(0.81),0.90(0.91)).本研究のマイクロアレイ法は,検出できなかった遺伝子多型について改善する必要がある一方で,初期のスクリーニング方法として重要である.

The field of molecular biology currently faces the need for a comprehensive method of evaluating individual differences derived from genetic variation in the form of single nucleotide polymorphisms (SNPs). SNPs in human genes are generally considered to be very useful in determining inherited genetic disorders, susceptibility to certain diseases, and cancer predisposition. Quick and accurate discrimination of SNPs is the key characteristic of technology used in DNA diagnostics. For this study, we first developed a DNA microarray and then evaluated its efficacy by determining the detection ability and validity of this method. Using DNA obtained from 380 pregnant Japanese women, we examined 13 polymorphisms of 9 genes, which are associated with the metabolism of environmental chemical compounds found in high frequency among Japanese populations. The ability to detect CYP1A1 I462V, CYP1B1 L432V, GSTP1 I105V and AhR R554K gene polymorphisms was above 98%, and agreement rates when compared with real time PCR analysis methods (kappa values)showed high validity: 0. 98 (0.96), 0.97 (0.93), 0.90 (0.81), 0.90 (0.91), respectively. While this DNA microarray analysis should prove important as a method for initial screening,it is still necessary that we find better methods for improving the detection of other gene polymorphisms not part of this study.

Journal

  • Fukuoka acta medica

    Fukuoka acta medica 98(5), 208-214, 2007-05-25

    福岡医学会

Codes

  • NII Article ID (NAID)
    120000987163
  • NII NACSIS-CAT ID (NCID)
    AN00215478
  • Text Lang
    ENG
  • Article Type
    特集
  • Journal Type
    大学紀要
  • ISSN
    0016254X
  • NDL Article ID
    8899523
  • NDL Source Classification
    ZS7(科学技術--医学)
  • NDL Call No.
    Z19-86
  • Data Source
    NDL  IR 
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