| Project/Area Number |
09470183
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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 | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | NAGOYA CITY UNIVERSITY |
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Principal Investigator |
WADA Yoshiro Nagoya City University, Medical School, Prof., 医学部, 教授 (30004849)
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| Co-Investigator(Kenkyū-buntansha) |
KIDOUCHI Kiyoshi Nagoya Higashi General Hospital, Pediatrics, Chief, 小児科, 部長
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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 |
¥10,100,000 (Direct Cost: ¥10,100,000)
Fiscal Year 1998: ¥5,400,000 (Direct Cost: ¥5,400,000)
Fiscal Year 1997: ¥4,700,000 (Direct Cost: ¥4,700,000)
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| Keywords | pyrimidine / dihydropyrimidine / ピリミジン代謝 / 先天代謝異常 / 5-フルオロウラシル / 薬物副作用の予知防止 / DPD欠損症 / ジヒドロピリミジン尿症 / ピリミジン系化学療法剤 |
|---|
| Research Abstract |
Study of Pyrimidine Metabolism Disorders (2) : Biochemical and molecular analyses on asymptomatic dihydropyrimidinuria and high-pyrimidinuria
1. Dihydropyrirnidinuria
We performed a molecular analysis on 4 asymptomatic dihydropyrimidinuria who had been detected by the urinary screening examination. Each exon (1 - 9) of the gene coding for dihydropyrimidinase was amplified by PCRamplification. The PCR products was subcloned and sequenced. We identified two missence mutations and one frarneshift mutations. Two related adults were homozygous for the 1001G transiton. One unrelated infant was heterozygous for the 1001G transition and the InsA.Onother unrelated infant was heterozygous for the A1001G transition and the G1303A.
2. Dihydropyrimidin dehydrogenase deficiency
We analysed the dihydropyrimidine dehydrogenase gene in a patient with a severe fluorouracil toxicity, and identified novel mutations.
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