| Co-Investigator(Kenkyū-buntansha) |
KAWANO Hiroyuki Juntendo University School of Medicine, Assistant, 医学部, 助手 (70234094)
SAKUMA Hitoshi Juntendo University School of Medicine, Assistant, 医学部, 助手 (60235207)
FUJIKI Keiko Juntendo University School of Medicine, Assistant Prof., 医学部, 講師
HOTTA Yoshihiro Juntendo University School of Medicine, Assistant Prof., 医学部, 講師 (90173608)
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| Research Abstract |
Since Dryja et al. (1990) found a point mutation of rhodopsin gene in autosomal dominant retinitis pigmentosa (ADRP), almost 60 point mutations or deletions of the rhodopsin gene have been found in 25-30% of ADRP patients in U.S.A.and 16% in U.K.. And also the mutations of peripherin/RDS gene have been found not only in ADRP patients but also in patients with cone-rod dystrophy, rod-cone dystrophy, pattern dystrophy, macular degeneration and so on. Purpose of this research was to be screening the mutations of candidate genes ; rhodopsin (for 43 patients with ADRP), peripherin/RDS (43 ADRP and 26 ARRP, and 36 related disease of retinal degeneration), beta-cGMP-phosphodiesterase (43 ADRP and 26 ARRP for 6 exons) and phosducin and ROM-1 (16 ADRP) genes in Japanese patients by single strand conformation polymorphism (SSCP) method, direct sequencing and/or restriction enzymes. During these three years almost 300 leucocyte samples have been obtained and kept for further analyzes. We found ad
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ditional mutation of codon 15 in ADRP patient (we have already found codon 17 and 347 mutations of rhodopsin gene among these ADRP patients, therefore rate of mutations of rhodopsin gene in ADRP was 7% (3/43)). Funduscopic findings were the same sectorial type as that of the patients with the same codon 15 mutation found in an Australian pedigree. We obtained also several kind of DNA polymorphisms. Although point mutations of codon 174 in rhodopsin gene, and codon 304 and 338 in peripherin/RDS gene result in an amino acid substitution. However, these mutations were not associated with the disease. Latter two mutations were detected in normal controls with high frequencies. Although quality of SSCP and selection of the samples should be taken into consideration, and then all patients have not been screened completely for all exsons of all genes analyzed here, there may be not so many cases caused by the mutation of the rhodopsin, peripherin/RDS and other genes examined in the Japanese patients with retinal degeneration. Less
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