title: Peripherin/RDS gene in Indonesian patients with retinitis pigmentosa: geographic comparison of polymorphic variations.
abstract: To analyze peripherin/RDS (retinal degeneration slow) gene alterations in Indonesian patients with retinitis pigmentosa. We examined the gene in 13 unrelated Indonesian patients with retinitis pigmentosa and in 24 normal individuals. Peripheral venous blood was extracted, and genomic DNAs were amplified by polymerase chain reaction (PCR). The PCR products were directly sequenced. Each subject underwent ocular examination. The prevalence of the gene alteration was compared to that reported in Japanese and Caucasian populations. Among 13 patients, 3 concurrently had Glu304Gln and Gly338 Asp alterations at exon 3 of the peripherin/RDS gene. Two patients had heterozygous alterations and one had a homozygous variation. The prevalence of the alterations (23%) in Indonesian patients was similar to that in Japanese patients (26%) and was lower than that in Caucasian patients (30-70%). The alterations were also observed in 7 of 24 (29%) normal healthy Indonesian individuals. Peripherin/RDS gene polymorphisms (Glu304Gln and Gly338Asp) were found in Indonesian patients with retinitis pigmentosa. The prevalence of alterations in Indonesian patients was similar to that in Japanese patients and lower than in Caucasian patients.
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Hasanuddin University, Jl. Perintis Kemerdekaan Km 10, Tamalanrea Makassar, South Sulawesi, Indonesia. budu02@yahoo.com
authors.lastname: Budu
authors.forename: Seiji
authors.initials: S
authors.lastname: Hayasaka
authors.forename: Rukiah
authors.initials: R
authors.lastname: Syawal
authors.forename: Habibah S
authors.initials: HS
authors.lastname: Muhiddin
authors.forename: Irfan
authors.initials: I
authors.lastname: Idris
authors.forename: Irawan
authors.initials: I
authors.lastname: Yusuf
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007214:Indonesia; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA