1995 Fiscal Year Final Research Report Summary
Molrcular biological study of hereditary retinochoroidal degeneration
| Project/Area Number |
05671473
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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 | Keio University |
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Principal Investigator |
MASHIMA Yukohiko Keio Univ, Sch.of Medicine, Assist Profrssor, 医学部, 講師 (40157186)
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| Co-Investigator(Kenkyū-buntansha) |
SAGA Masamichi Keio Univ, Sch.of Medicine, Instructor, 医学部, 助手 (00245557)
NOMURA Masahiro Keio Univ, Sch.of Medicine, Instructor, 医学部, 助手 (60172821)
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| Project Period (FY) |
1993 – 1995
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| Keywords | retinal dystrophy / rhodopsin / peripherin / phosphodiesterase / retina cDNA / cDNA library / retinitis pigmentosa |
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| Research Abstract |
We investigated 20 pedigrees with autosomal dominant retinitis pigmentosa (ADRP) and 6 ones with autosomal recessive retinitis pigmentosa. One of the 20 pedigrees had a mutaion of the rhodopsin gene at codon 181, and one had a mutation of the peripherin/RDS gene at codon 214. One of the 6 pedigrees had the mutation of the phosphodiesterase beta subunit gene at codon 535. In Japan, only two genes were associated with ADRP,while in the USA,about 30% or 10% of the patients with ADRP are associated with the rhodopsin or peripherin gene mutations, respectively. The disease-causing genes in Japanese patients with ADRF may show heterogeneity. Thus, we have started to clone the retina-specific genes, which could be assocaited with RP.Several candidate genes were cloned and mapped on the chromosomes. This strategy sill be a powerful method to identify the the disease-causing genes of RP.
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