1990 Fiscal Year Final Research Report Summary
DNA Diagnosis of X-linked Chorioretinal Degenerations
| Project/Area Number |
01480420
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Ophthalmology
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| Research Institution | Juntendo University School of Medicine |
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Principal Investigator |
HAYAKAWA Mutsuko Juntendo Univ., Ophthalmology, Assistant Prof., 医学部・眼科, 講師 (60095825)
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| Co-Investigator(Kenkyū-buntansha) |
FUJIKI Keiko Juntendo Univ., Ophthalmology, Assistant Prof., 医学部・眼科, 講師
MURAKAMI Akira Juntendo Univ., Ophthalmology, Assistant, 医学部・眼科, 助手 (90157743)
HOTTA Yoshihiro Juntendo Univ., Ophthalmology, Assistant, 医学部・眼科, 助手 (90173608)
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| Project Period (FY) |
1989 – 1990
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| Keywords | X-linked / Chorioretinal diseases / Autosomal dominant retinitis pigmentosa / Rhodopsin gene / Choroideremia / Leber's disease / Genetic counseling / Molecular biology |
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| Research Abstract |
Since the short arm of X chromosome was well researched molecular biologically, we initially planned to analyze X-linked chorioretinal degenerative diseases. This research field has progressed rapidly in the U. S. A. and Europe over the past three years, so we changed the focus of our study slightly.
We investigated X-linked retinitis pigmentosa patients whose clinical diagnoses were already decided and their families. We purified DNA from their leukocyte pellets, and performed genomic Southern blot analysis using the OAT cDNA and L1.28 as a probe. The result showed no long deletion. The mutations involving codon 23, codon 58 and codon 347 in an allele of rhodopsin gene were recently reported in autosomal dominant retinitis pigmentosa (ADRP) by Dryja. We analyzed 20 Japanese families with ADRP. Several DNA fragments were amplified by means of polymerase chain reaction (PCR). The PCR products of DNA were cut by restriction enzyme or sequenced. A codon 347 mutation of an allele of the rho
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dopsin gene was detected in a family (father and his daughter). This family represents the first Japanese case of ADRP with the mutation. This result suggests that codon 347 mutation may be the cause of one form of ADRP, because the mutation was detected in Japanese family which has different ancestry from families reported previously abroad. This result makes the molecular diagnosis possible in this family, concerning the detection of carriers or patients before onset.
We also performed investigations of patients with choroideremia and their families, and purified DNA from their leukocyte pellets. The Southern blot analysis using the reported candidate choroideremia cDNA probe showed no long deletion.
To further investigate the possibility of the molecular diagnosis in the ophthalmological field, we analyzed the mitochondrial DNA (mtDNA) of Japanese families with Leber's disease. Detecting the mutation in mtDNA in Leber's disease is very useful for the diagnosis, especially in Japan. We initiated genetic counseling using the informations of molecular diagnosis. Less
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