| Project/Area Number |
15591883
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Fukuoka University |
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Principal Investigator |
KONDO Hiroyuki Fukuoka University, School of Medicine, Dept.of Ophthalmology, Assistant Professor, 医学部, 講師 (40268991)
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| Co-Investigator(Kenkyū-buntansha) |
HAYASHI Kenshi Kyushu University, Medical Institute of Bioregulation, Research Center for Genetic Information, Division of Genome Analysis, Professor, 生体防御医学研究所, 教授 (00019671)
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| Project Period (FY) |
2003 – 2005
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| Project Status |
Completed (Fiscal Year 2005)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2005: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2004: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2003: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | retinal disease / human genome / genetic diagnosis / microsatellite marker / autosomal recessive / familial exudative vitreoretinopathy / retinitis pigmentosa / familial optic atrophy / 常染色体劣性遺伝 |
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| Research Abstract |
With a principle of post-labeling method that we have previously developed, as well as data of human genetic information recently established, a novel system for linkage analysis was developed. The method involves newly designed sets of microsatellite markers representing genes responsible for hereditary vitreoretinal diseases. The diseases included syndromic or non-sydromic retinitis pigmentosa, Usher syndrome, acrhomatopsia, rod-cone dystrophy, Leber congenital amaurosis and familial exudative vitreoretinopathy. We successfully applied this method in order to identify responsible genes for Japanese patients with retinal diseases such as familial exudative vitreoretinopathy, retinitis pigmentosa, norrie disease, familial optic atrophy, Stargardt disease and incontinentia pigmenti. As a topic result, we accomplished a comprehensive analysis for identifying responsible genes for Japanese patients with familial exudative vitreoretinopathy that is known to be highly prevalent among Japanese population. The results offered to explore genotype-phenotype correlation and the underlying genetic background of this hereditary disease.
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