1994 Fiscal Year Final Research Report Summary
Molecular Biological Approach to Hereclitay Detinoclsotdal Disorders
| Project/Area Number |
04671061
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Ophthalmology
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| Research Institution | Tohoku Univresity |
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Principal Investigator |
SHIONO Takashi Tohoku Univ.Dept.Ophthalmol, Associate Professor, 医学部, 助教授 (20133978)
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| Co-Investigator(Kenkyū-buntansha) |
TAMAI Makoto Tohoku Univ.Dept.Ophthalmol, Prof., 医学部, 教授 (90004720)
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| Project Period (FY) |
1992 – 1994
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| Keywords | Retinitis Pigmentosa / Rhodopsin Gene / Peripherin / RDS gene / Gyate ATrophy / OAT gene / Acetazolamicle / X-linked Ocrlan Albimism |
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| Research Abstract |
We screened the DNAs from patients with retinitis pigmentosa by the methods of PCR and SSCP.Afer screening, we determined the sequences of the DNA when abnormal bands were observed by SSCP.So far, two families with the rhodopsin gene mutations (Pro347Leu, Thr17Met) and one family with the peripherin/RDS gene mutation (Asp244Lys) have been found by these methods. We also have observed clinical findings of the families that showed the definite association of genotypes and phenotypes.
Acetazolamide has been tried to treat patients with retinitis pigmentosa. The medicine has been useful for the patients with cystoid macular edema. We also have been trying hyperbarix treatment and prostaglandins to patients with retinitits pigmentosa.
OAT gene of patients with gyrate atrophy of the choroid and retina has been analyzed. The OAT gene mutations of the Japanese patients were specific, suggesting the relationship between the clinical findings and gene abnormalities.
Clinical findings of Japanese patients with X-linked ocular albinism were analyzed. The clinical findings of the Japanese patients were quite diferent from those of other racial patients, suggesting the importance of the clinical data on the races.
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[Publications] Shiono, T., Hotta, Y., Noro, M., Sakuma, T., Tamai, M., Hayakawa, M., Hashimoto, T., Fujiki, K., Kamai, A., Nakajima, A.: "Clinical features of autosomal dominant retinitis pigmentosa with a point mutation in codon 347 of the rhodopsin gene." Jpn J Ophthalmol. 36. 69-76 (1992)
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「研究成果報告書概要(欧文)」より
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[Publications] Fujiki K,Hotta Y,Hayakawa M,Sakuma H,Shiono T,Noro M,Sakuma T,Tamai M,Hikiji K,Kawaguchi R,Hoshi A,NakajimaA,Kanai A: "Point mutatins of rhodopsin gene found in Japanese families with ADRP." Jpn J Human Genet. 37. 125-132 (1992)
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[Publications] Hayakawa, M., Matsumura, M., Ohba, N., Matsui, M., Fujiki, K., Kanai, A., Tamai, M., Shiono, T., Tokoro, T., Akazawa, Y., Kubota, N., Kawano, S., Yuzawa, M., Oguchi, Y., Akeo, K., Adachi, E., Takeda, N., Miyake, Y., Yagasaki, K., Wakabayashi, K., Ishizawa, N., Honda, Y., Sakaue, H., Uyama, M., Kishimoto, N., Koizumi, K., Ishibashi, T., Honda, T., Isashiki, Y., Unoki, K.: "A multicenter study of typical retinitis pigmentosa in Japan." Jpn.J.Ophthalmol.37. 156-164 (1993)
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[Publications] Inana, G., Hotta, Y., Mashima, Y., Akaki, Y., Chambers, C., Murakami, A., Weleber, R., Kennaway, N., Shiono, T.: "Molecular genetic basis of gyrate atrophy." Invest. Ophthalmol. Vis.Sci.(Suppl) 35. 1984- (1994)
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「研究成果報告書概要(欧文)」より
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[Publications] Nakazawa, M., Kikawa, E., Kamio, K., Chida, Y., Shiono, T., Tamai, M.: "Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asp244Lys) of the peripherin/RDS gene." Arch Ophthalmol. 112. 1567-1573 (1994)
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「研究成果報告書概要(欧文)」より
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