1998 Fiscal Year Final Research Report Summary
Analysis of gene mutations in retinal dystrophies
| Project/Area Number |
08457468
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Ophthalmology
|
|---|
| Research Institution | Juntendo University School of Medicine |
|---|
Principal Investigator |
HAYAKAWA Mutsuko Juntendo University Ophthalmology Assitant Professor, 医学部, 講師 (60095825)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
SAITO Akio Juntendo University Ophthalmology Assitant, 医学部, 助手 (10260902)
FUJIKI Keiko Juntendo University Ophthalmology Assitant Professor, 医学部, 講師
HOTTA Yoshihiro Juntendo University Ophthalmology Assitant Professor, 医学部, 講師 (90173608)
|
|---|
| Project Period (FY) |
1996 – 1998
|
| Keywords | retinitis pigmentosa / choroideremia / X-linked retinoschisis / REP-1 gene / XLRSI gene / Leber's optic neuropathy / mutation / phenotype |
|---|
| Research Abstract |
We analyzed the candidate genes of retinitis pigmentosa, retinal dystrophies, choroideremia, and X - linked retinoschisis of over 200 families. It was difficult to detect the mutations of retinitis pigmentosa and retinal dystrophies. because there were too many candidate genes. however, 15 kinds of mutations of REP - 1 (Rab escort protein - 1) gene were detected in 22 patients with choroideremia and 5 female carriers from 19 families. All of them were nonsense mutation, small deletion or insertion. There was neither hot spot in the gene nor the correlation of phenotype with genotype of the mutations. We also found 8 kinds of mutations in XLRS1 gene in 15 patients with retinoschisis and 3 female carriers from 12 families. In contrast to choroideremia, all of them were missense mutations except one nonsense mutation. The relationship between genotype and phenotype was not observed in the cases of retinoschisis. DNA analysis is expected to be useful in the diagnosis of these diseases because the mutation of the causative gene is detected with high reliability. Mitochondrial DNA analysis has already been shown to be useful in the diagnosis of Leber's optic neuropathy in our clinic. We could get many results over the three years.
|
