| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
Progressive muscular dystrophy mainly develops due to genetic abnormality which result in decrease or lack muscle component. In cases of muscular dystrophy for which deletion / duplication mutations were not identified by the MLPA, we identified deletion or point mutations with a small number of nucleotides using direct nucleotide sequence or next-generation sequencer, and analyzed the splicing type in these cases. As a result, we were able to clarify the effect of small mutations on splicing. In analysis of the type 6 collagen gene, we found that two types of mRNA were produced by having two closely mutations on the same allele.
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