| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
This study aimed to elucidate unknown mechanisms underlying the pathogenesis of hemophilia A. Five hemophilia A patients in whom an etiological variant could not be identified by a standard analysis were investigated. A more detailed analysis of the responsible gene (F8) revealed the causative variant in 3 patients. The analysis of one of these cases revealed a meaningful finding that suggested the importance of the source from which the sample DNA was obtained. The analysis of the other two cases revealed large structural variants (inversion) on the long arm of the X chromosome that had not previously been detected in Japan. An exhaustive analysis of the F8 was performed using next-generation sequencing for the remaining two cases in which the etiology had not been detected. In each case, a very rare variant was detected deep inside the intron. Although this might have been the causative variant, its causal relationship with hemophilia remains to be elucidated.
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