| Project/Area Number |
09557206
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 展開研究 |
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| Research Field |
Human genetics
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| Research Institution | Tohoku University |
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Principal Investigator |
ISHIOKA Chikashi Tohoku University, Institute of Development, Aging and Cancer, Associate Professor, 加齢医学研究所, 助教授 (60241577)
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| Co-Investigator(Kenkyū-buntansha) |
YOKOYAMA Yasunobu SRL,Co Ttd.Center of Genes and Chromsomes Analysis, Chief Researcher, 遺伝子染色体解析センター・遺伝子解析課, 研究職
森田 良治 (株)エスアールエル, 遺伝子染色体解析センター・研究開発課, 担当主任(研究職)
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| Project Period (FY) |
1997 – 1998
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| Project Status |
Completed (Fiscal Year 1998)
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| Budget Amount *help |
¥10,000,000 (Direct Cost: ¥10,000,000)
Fiscal Year 1998: ¥2,600,000 (Direct Cost: ¥2,600,000)
Fiscal Year 1997: ¥7,400,000 (Direct Cost: ¥7,400,000)
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| Keywords | genetic diagnosis / functional analysis / Saccharomyces cerevisiae |
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| Research Abstract |
We have developed the yeast-based diagnostic system for cancer susceptibility genes, including the BRCA 1, BRCA2, ATM, APC, hMSH2 and hMLH 1 genes. Among these, former five genes were adapted to the yeast-based stop codon assay (SC assay) which has the ability to detect nonsense and frameshift mutations within the open reading frame of the genes. Only in case of hMLH I gene, a functional assay, which has the ability to detect and characterize the missense mutations, was developed. Since germline missense mutations have been often reported in hereditary non-polyposis colorectal cancer families. the assay we developed here should be extremely useful for detection and characterization of pathogenic mutations of the hMLH1 gene. We are successfully improving these assay systems by using green fluorescence protein (GFP) gene as a marker. The resulting assays became to be powerful genetic diagnostic tools for detection of cancer susceptibility genes.
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