| Project/Area Number |
24659420
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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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) |
2012-04-01 – 2014-03-31
|
| Project Status |
Completed (Fiscal Year 2013)
|
| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 多発性嚢胞腎 / ADPKD / PKD1 / PKD2 / 遺伝子変異 / 次世代シークエンサー |
|---|
| Research Abstract |
In seventeen-nine of one hundred and two ADPKD patients, the mutations of PKD1 or PKD2 gene were found by next generation sequencing method using target-enrichment DNA system. The detection rate was 77.5 %. In sixty-seven mutations of PKD1 gene, eighteen nonsense mutation (27%), thirteen small deletion or insertion (19%), five splicing mutation (7%), thirty-one missense mutation (46%) were found. In twelve mutations of PKD2 gene, seven nonsense mutation (58%), three small deletion or insertion (25%), no splicing mutation and two missense mutation (17%) were found. PKD mutations by next generation sequencing method using target-enrichment DNA system were detected in a short time in comparison with the conventional capillary sequencing method.
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