| Item type |
デフォルトアイテムタイプ_（フル）(1) |
| 公開日 |
2023-03-18 |
| タイトル |
|
|
タイトル |
Peripherin/RDS Gene in Indonesian Patients with Retinitis Pigmentosa : Geographic Comparison of Polymorphic Variations |
|
言語 |
en |
| 作成者 |
Budu
Hayasaka, Seiji
Syawal, Rukiah
Muhiddin, Habibah S.
Idris, Irfan
Yusuf, Irawan
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利情報 |
|
|
権利情報 |
Hiroshima University Medical Press |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Indonesian |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Peripherin I RDS gene |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Polymorphic alteration |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Retinitis pigmentosa |
| 主題 |
|
|
主題Scheme |
NDC |
|
主題 |
490 |
| 内容記述 |
|
|
内容記述 |
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. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Hiroshima University Medical Press |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0018-2052 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00664312 |
| 開始ページ |
|
|
開始ページ |
73 |
| 書誌情報 |
Hiroshima Journal of Medical Sciences
Hiroshima Journal of Medical Sciences
巻 54,
号 3,
p. 73-76,
発行日 2005-09
|
| 旧ID |
37663 |
HiroshimaJMedSci_54_73.pdf (652.1 KB)
