| Project/Area Number |
10670404
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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 |
Legal medicine
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| Research Institution | Osaka Medical College |
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Principal Investigator |
TAMURA kiyoshi Faculty of Medicine, Osaka Medical College, Research Associate, 医学部, 助手 (50207239)
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| Co-Investigator(Kenkyū-buntansha) |
NISHIO Hajime Faculty of Medicine, Osaka Medical College, Assistant Professor, 医学部, 講師 (90253260)
MIYAZAKI Tokiko Faculty of Medicine, Osaka Medical College, Research Associate, 医学部, 助手 (60084919)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1999: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1998: ¥900,000 (Direct Cost: ¥900,000)
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| Keywords | STR / DNA / polymorphism / VWF / mutation / de novo / vW |
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| Research Abstract |
We have detected an unusual allele (de novo allele) at the von Willebrand factor gene (Vwf) in the paternity case (trio). The unusual allele at the child was found not to derive from the parents. Another two STRs within the same intron (intron 40) at Vwf of allowed us to analyze the haplotype consisting of the three STRs. We examined base sequence for the de novo allele on haplotype analysis of three STR regions. The de novo allele of the child was the result of a mutation in allele at the Vwf locus gained one repeat unit at the paternal longer allele. In addition, we have analyzed allele frequency distributions and sequencing data at the Vwf locus. Eight different alleles were identified on the tested. All allele sequenced so far showed the same basic repeat structure TCTA(TCTG)ィイD24ィエD2(TCTA)ィイD210-16ィエD2TCCA TCTA except allele14 which revealed a strongly different sequence structure. The allele 14 has only 3 regular repeats (TCTA) on either side of a variant repeat. We observed the allele 14 at 3'-flanking region by structure variants caused by T to C transitio. The results obtained in this study demonstrated that the haplotype analysis is a useful method at a analysis of a de novo mutation where the parents inherited could not determined.
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