| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
We started gene mutation analysis by the whole exome sequencing, but we switched to gene panel analysis for 32 known genes, considering the efficiency of the analysis. We analyzed 93 patients (three months-64 years old) who were suspected of primary ciliary dyskinesia (PCD). As a result, the following mutations were found. c.894C>G, c.1599_1600insT, c.1631C>T, c.5297C>T, c.5367delT, c.5563_5564insA, c.5983C>T. c.6053T>C, c.7550_7556delAGCTGCC, c.7561_7573delCCAGCGGGGCCC, c.9018C>T, c. 9101delG, c.10616G>A, c.13286G>A , c.13837delG, c.9286C>T in DNAH5. c.940T>A, c.794G>A, c.1148G>A, c.2874A>C, c.9674T>G, c. 10353+1G>A, c.10411G>A, c.12310C>T, c. 12331C>T in DNAH11. Thus, it was found that mutations in DNAH5 and DNAH11 are prevalent in the Japanese patients with PCD.
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