| Project/Area Number |
06670781
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | GIFU UNIVERSITY |
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Principal Investigator |
SUZUKI Yasuyuki GIFU UNIVERSITY,SCHOOL OF MEDICINE,DEPARTMENT OF PEDIATRICS,ASSISTANT PROFESSOR, 医学部附属病院, 講師 (00163014)
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| Project Period (FY) |
1994 – 1995
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| Project Status |
Completed (Fiscal Year 1995)
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| Budget Amount *help |
¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 1995: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1994: ¥800,000 (Direct Cost: ¥800,000)
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| Keywords | PEROXISOMES / beta-OXIDATION / ACYL-CoA OXIDASE / BIFUNCTIONAL ENZYME / GENE MUTATION / β酸化 / 酵素欠損症 / 遺伝子クローニング |
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| Research Abstract |
cDNAs for human acyl-CoA oxidase and bifunctional enzyme were cloned. Acyl-CoA oxidase cDNA has SKL motif and encodes 661 amino acids with high homology to rat enzyme. Consanguineous siblings with acyl-CoA oxidase deficieency had a homozygous exonic point mutation which resulted in an amino acid substitution (M278V). Cloned cDNA for bifunctional enzyme encodes 772 amino acids. A patient with bifunctional enzyme deficiency had a point mutation (A274T). These results will facilitate DNA diagnosis and gene therapy for these disorders.
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