Molecular Genetic Studies on Hereditary Orotic Aciduria
| Project/Area Number |
01480262
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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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 Department of Pediatrics Professor, 医学部, 教授 (30004849)
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| Co-Investigator(Kenkyū-buntansha) |
SUGIYAMA Naruji Nagoya City University Medical School Department of Pediatrics Research Scientis, 医学部, 助手 (50150777)
YAZAKI Makoto Nagoya City University Medical School Department of Pediatrics Research Scientis, 医学部, 助手 (80133479)
KOBAYASHI Masanori Nagoya City University Medical School Department of Pediatrics Assistant Profess, 医学部, 助手 (50170353)
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| Project Period (FY) |
1989 – 1990
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| Project Status |
Completed (Fiscal Year 1990)
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| Budget Amount *help |
¥4,700,000 (Direct Cost: ¥4,700,000)
Fiscal Year 1990: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1989: ¥3,500,000 (Direct Cost: ¥3,500,000)
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| Keywords | Orotic Aciduria / OPRT / ODC / Lymphoblast / Mutant cDNA / UMPS cDNA / cDNA クロ-ニング / ウリジン / UMP 合成酸素 / 塩基配列 / 1塩基置換 / 皮膚線維芽細胞 / チミジンの取込み / EBウイルス |
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| Research Abstract |
Orotidine monophosphate decarboxylase (ODC) was extracted from human erythrocytes and was purified to have the specific activity of 54,000 folds. cDNA clone encoding this enzyme was isolated from human placenta cDNA library. Sequential studies revealed that human orotate phosphoribosyl transferase (OPRT) domain and ODC domain coexisted in the same open reading frame. Then, mutant uridine monophosphate synthetase (UMPS) cDNA, which contained both cDNA of OPRT and ODC, from the patient with hereditary orotic aciduria was analyzed. No difference of mRNA was revealed between the patient and normal controls by means of northern blot. But one point mutation was detected at the connecting part of the both cDNA.
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Report
(3 results)
Research Products
(18 results)
