| Project/Area Number |
20390240
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Kobe University |
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Principal Investigator |
IIJIMA Kazumoto Kobe University, 大学院・医学研究科, 教授 (00240854)
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| Co-Investigator(Kenkyū-buntansha) |
NAGATA Michio 筑波大学, 大学院・人間総合科学, 教授 (10192238)
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| Co-Investigator(Renkei-kenkyūsha) |
NAKAYAMA Makioko 東北大学, 大学院・学系研究科, 大学院生 (80469999)
MORISADA Naoya 神戸大学, 大学院・医学研究科, 助教 (00389446)
NOZU Kandai 神戸大学, 医学部附属病院, 助教 (70362796)
HASHIMURA Yuya 神戸大学, 大学院・医学研究科, 助教 (80457077)
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| Project Period (FY) |
2008 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥18,590,000 (Direct Cost: ¥14,300,000、Indirect Cost: ¥4,290,000)
Fiscal Year 2010: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2009: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2008: ¥7,930,000 (Direct Cost: ¥6,100,000、Indirect Cost: ¥1,830,000)
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| Keywords | 先天性腎尿路奇形 / CNV解析 / 原因遺伝子 / 先天性腎尿路奇形(CAKUT) / copy number variation (CNV) / microdeletion / microduplication / copy number variation(CNV) / genome-wide CNV array / TCF2 / 多嚢胞性異形成腎(MCDK) |
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| Research Abstract |
Copy number variation (CNV) of human genome is associated with several diseases including congenital anomalies. To identify new genes responsible for congenital anomalies of kidney and urinary tract (CAKUT), we utilized Agilent genome-wide CNV 400k array. We identified 4 CNV regions, which were not detected in healthy controls and CNV databases. We found 8 genes within or around these CNV regions. Of these genes, we identified a gene in which a CAKUT-specific heterozygous deletion resulted in deletion of 3 exons. We will analyze whether these genes are responsible for CAKUT. We developed comprehensive gene testing systems for known CAKUT genes (HNF1B, PAX2, EYA1, SIX1, SALL1) using multiplex ligation-dependent probe amplification and mRNA level analysis as well as direct sequencing of genomic DNA.
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