| Project/Area Number |
08670907
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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 | Nara Medical University |
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Principal Investigator |
NAKA Hiroyuki Nara Medical University, Faculty of Medicine, Assistant, 医学部, 助手 (40281761)
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| Co-Investigator(Kenkyū-buntansha) |
TANAKA Ichiro Nara Medical University, Faculty of Medicine, Associate-Professor, 医学部, 講師 (00201616)
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| Project Period (FY) |
1996 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1997: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1996: ¥600,000 (Direct Cost: ¥600,000)
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| Keywords | Hypoprothrombinemia |
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| Research Abstract |
Prothrombin is plasma glycoprotein synthesized mainly in the liver. It plays a central role in the blood coagulation cascade. The complete protein and DNA sequences of human have been already reported. Mature human prothrombin contains 579 amino acid residues with a molecular mass of 72 kDa. We have taken after a boy with hypo-prothrombinemia, who has been sufferd from several bleeding episodes, including intracranial hemorrage. We have been tried the gene analysis of this patient with hypo-prothrombinemia.
As first screening, we tried PCR-SSCP analysis with 13 pairs of primers, which coverd entire coding exons and exon-intron boarders. PCR did work but PCR-SSCP analysis did not work. We could not detect any evidence of mutation. We refined the migration condition of the PCR-SSCP analysis and shortening the length of the PCR products. Additional 10 pairs of primers were prepared and we assayd the PCR-SSCP analysis again. It still did not work. This result suggested the two possibility. Firstly the PCR-SSCP analysis is limitted as a screening analysis. We have started full-sequencing of entire coding region of prothrombin and have already analyzed the half of the coding region. At present there were not any mutations. Secondoly the mutation is not present at the coding region. It might be present at 5 up-stream region, which regulates the expression of prothrombin. We just started the promoter analysis. Normal -1500 to +155 of the up-stream region was just cloned to the luciferase related vector.
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