| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Outline of Final Research Achievements |
Familial platelet disorder with propensity to myeloid malignancy (FPD/MM) is an autosomal dominant disorder characterized by quantitative and functional platelet abnormalities and propensity to develop myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Causal mutations have been identified in the RUNX1 gene. In this research, the genetic analysis was performed to identify the cause of FPD/MM.
The Sequencing analysis of the exons 1-8 of Runx1 gene revealed no mutations. The microsatellite analysis using seven markers localized in the RUNX1 gene suggested hemi-allele deletion of the exon1 region. The copy number analysis revealed the deletion of the exon1. Although the mechanism of FPD/MM has been considered dominant-negative effect of the abnormal RUNX1 protein, these results suggest that haploinsufficiency of RUNX1 is rather responsible of the disease.
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