| Budget Amount *help |
¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
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| Research Abstract |
Disease-causing mutations in congenital anomalies of kidney and urinary tract(CAKUT), which is the main factor of the renal insufficiency in the infant in late years, have been identified. However, there are no reports which analyze these genes comprehensively and clarify genotype-phenotype correlations. In this study, I first analyzed these genes comprehensively and examine genotype-phenotype correlations in CAKUT. In addition, I examine the existence of a gene and the environmental parameter to modify the CAKUT onset and disease severity at the same time.
At first I collected CAKUT cases widely and PCR and direct sequence method were performed in TCF2(HNF-1β) and PAX2. If no mutations were found, PCR and direct sequence method were also performed about EYA1, SIX1, SALL1, other genes including RET. The case that variation was identified while analysis is finished is three cases in total now ; each was PAX2(2 example), SALL1(1 example). Both variations are going to introduce other methods of analysis including array CGH about the case having the clinical manifestations except the kidney among the cases that were not identified.
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