| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Outline of Final Research Achievements |
Using large number of samples of Japanese patient with pulmonary arterial hypertension (PAH), I established a method both to define intron structure with restriction digest after amplify the full length with Long PCR in BMPR2 gene and to search for splicing variants with RT-MLPA. By both of established RT-MLPA method and whole exome sequencing, a hidden exon in intron 3 region was identified. Splicing variants including hidden exon was identified by RT-PCR, although it expressed in low level. Although the function of identified splicing variant is unknown, there is a possibility to gain new knowledge by analyzing hidden exon region using more large number of samples.
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