| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
Thoracic Aortic Aneurysm and Dissection (TAAD) is a disease in which blood flows into the aortic media and forms a pseudoaneurysm and the layer structure dissociates. It is required to perform the sequence analysis of the entire causative gene which has been difficult in the past and to investigate the correlation between sequence analysis of ANRIL reported to be involved in the onset and Epigenetic regulation in the onset of TAAD. In this study, we established a method to amplify the full length with Long PCR in the ACTA2 gene with the maximum length of 20 kb including the entire coding exon 8 region, in which the most frequent mutation observed in TAAD, and to define base sequence for each exon. This method can analyze with much smaller sample volume than the conventional exon-to-exon PCR-direct sequencing method, and is effective not only for aortic dissection but also for analysis of many hereditary diseases.
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