| Project/Area Number |
16K19295
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Legal medicine
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| Research Institution | Shimane University |
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Principal Investigator |
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| Research Collaborator |
TAKESHITA Haruo
FUJIHARA Junko
YASUDA Toshihiro
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | 遺伝子多型 / 疾患感受性 / 法医学的試料 / 疾患・薬毒物代謝 |
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| Outline of Final Research Achievements |
The purpose of this study was to identify polymorphisms associated with diseases and drug metabolism from forensic specimen.
Among 61 non-synonymous single nucleotide polymorphisms (SNP) in DNASE1, only Q244R was polymorphic. Among 21 SNPs in DN1L1, V122I indicated genetic polymorphism in Caucasians. All of the 64 SNPs in DN1L2 were monomorphic. Among 40 SNPs in DN1L3, R206C and W215G were polymorphic among Caucasians. Among 31 SNPs in DNASE2, only V206I was polymorphic among Koreans. We have concluded PolyPhen-2 is effective in prediction of enzyme function abolishment by amino acid substitutions using PolyPhen-2.
2 SNPs in HMGA2 illustrated significant associations with height, right kidney weight and brain weight in Caucasians and Japanese. SNP in GHR was found to be associated with heart weight, left cardiac weight, cardiac hypertrophic coefficient, body surface area, right lung weight and kidney weights.
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