| Project/Area Number |
15K09279
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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 |
Kidney internal medicine
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 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 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
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| Keywords | 多発性嚢胞腎 / 次世代シークエンス / ADPKD / PKD1 / PKD2 / MLPA / 遺伝子解析 / 次世代シークエンサー / 遺伝子変異 |
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| Outline of Final Research Achievements |
We performed genetic analyses of 111 ADPKD patients using next-generation sequencing (NGS). The mutations of 96 patients were detected. Additionally, a mutation in exon 1 of PKD1 was identified using Sanger sequencing and five deletions were identified using multiplex ligation-dependent probe amplification (MLPA). When combined, the total detection rate was 91.9%. This study indicated that comprehensive genetic analyses might be needed for the identification of mutations in ADPKD.
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| Academic Significance and Societal Importance of the Research Achievements |
ADPKD患者の遺伝子解析を次世代シークエンス法，PKD1遺伝子のエクソン1の直接シークエンスならびにPKD1/PKD2遺伝子のMLPA解析を行うことにより，遺伝子変異検出率が91.9％まで上昇した．検出が難しいとされてきたADPKDの遺伝子診断において，その検出率の向上が確認されたことは学術的意義だけでなく，ADPKD患者の遺伝子解析の需要に応えるという社会的意義もあると思われる．
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