Rapid diagnosis of xeroderma pigmentosum
Project/Area Number |
25860953
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Dermatology
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Research Institution | Nagasaki University |
Principal Investigator |
TOMIMURA Saori 長崎大学, 病院(医学系), 講師 (30404271)
|
Project Period (FY) |
2013-04-01 – 2015-03-31
|
Project Status |
Completed (Fiscal Year 2014)
|
Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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Keywords | 色素性乾皮症 / DNA修復能の検出 / 遺伝子相補性試験 |
Outline of Final Research Achievements |
Xeroderma pigmentosum (XP) is a rare disease that has extraordinary photosensitivity and the skin-cancer predisposition with an autosomal recessive inheritance. Compromised nucleotide excision repair (NER) activity is known to be the cause of several photosensitive disease including XP. NER activity are divided into two subtypes, one is 'unscheduled DNA synthesis (UDS)', and the other is 'recovery of RNA synthesis (RRS)' that is a specific measure of the transcription-coupled repair. Until very recently, reliable methods for these assays involved measurements of incorporation of radio-labeled nucleosides. We recently developed nonradioactive assay utilizing the alkyne-nucleosides, such as 5-ethynyl-2'-deoxyuridine (EdU) for thymidine alternatives in UDS and 5-ethynyuridine (EU) for uridine in RRS. With an integrated image analyser, we determined the incorporation of EdU as well as EU, which reflected a repair activity of the patient's dermal fibroblasts.
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Report
(3 results)
Research Products
(3 results)