Construction of complementary genetic testing system for Mendelian genetic disease and social implementation in genetic medicine
| Project/Area Number |
16K08980
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Kanazawa Medical University |
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Principal Investigator |
NIIDA Yo 金沢医科大学, 総合医学研究所, 教授 (40293344)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 遺伝子検査学 / 臨床遺伝学 / 遺伝子診断 / 遺伝子変異 / 遺伝子検査 / 体細胞モザイク / スプライシング変異 / CHIPS 法 / COLD PCR法 / MugCap法 / 次世代シーケンサー / CHIPS法 / 遺伝学 |
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| Outline of Final Research Achievements |
In Japan, genetic testing for Mendelian inherited diseases has not been widely used because clinical testing companies can not supply the tests due to the discrepancy of the cost for testing and the insurance fee. In addition, there are several gene mutations that can not be detected only by conventional methods, determining the sequences of whole coding regions and exon-intron boundaries. In this study, we developed MugCap (Multiple gene competitive amplification) and Long-PCR based NGS (Next generation sequencing) and combined them complementarily to construct a more comprehensive gene testing system. This system can detect low frequency mosaic mutation and splicing mutation due to deep intronic substitution. Also, these developed methods can keep the low cost of examination, and whole examination system is provided at low cost to patients who visit our hospital.
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| Academic Significance and Societal Importance of the Research Achievements |
新たな遺伝子検査法を開発し、これをアルゴリズムに従って組み合わせることで網羅的かつ補完的な遺伝子検査システムを構築することが出来た。これにより従来は検出不能であった低頻度モザイク変異や、深部イントロン変異によるスプライシング異常、大欠失のbreak pointの同定などが容易となり、遺伝子検査の精度は飛躍的に向上した。本検査システムは金沢医科大学病院ゲノム医療センターで診断目的の遺伝子検査として導入されており、安価に患者に提供されている。多くの遺伝性疾患を持つ患者および家族の遺伝子診断、遺伝カウンセリングに有用であることは勿論、指定難病や小児慢性特定疾患の申請の際にも役立っている。
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Report
(4 results)
Research Products
(30 results)
