| Budget Amount *help |
¥1,940,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥240,000)
Fiscal Year 2007: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2006: ¥900,000 (Direct Cost: ¥900,000)
|
|---|
| Research Abstract |
We have done the screening for glaucoma-causal gene MYOC and WDR 36 in Japanese population, and did association analysis between phenotype and genotype comparing with normal subjects. Subjects were Primary Open Angle Glaucoma (POAG), Normal Tension Glaucoma (NTG) and Normal Subjects. In MYOC gene, we found the early onset two POAG pedigrees related with Ala363Thr mutation, and one POAG subject related with Asn297His mutation (MengGe M, ed. Al. Mol Vis.2007). In WDR36 gene, we found Ser664Leu in POAG subject, and revealed that Ile264Val, IVS16-30A/G were associated with phenotype of visual field defect of POAG (Miyazawa A, ed. Al. Mol Vis.2007). Beside the POAG/NTG; we found Ala85Pro mutation and 437-453de117 in FOXC1 gene in Axenfeld-Rieger syndrome, which is one form of congenital glaucoma (Fuse N, ed. Al. Mol Vis.2007)
As a result, we identified the new information as follows:
1) the distribution of MYOC mutations is same as that of Caucasians, but the positions are different
2) the distribution of WDR36 mutations is different from that of Caucasians, and related with phenotype of POAG
3) the spectrum of FOXC1 mutation is unique to Japanese. Those results will be helpful for genetic testing for glaucoma in near future.
|
