Research about etiology and prophylactic program in open angle glaucoma

开角型青光眼的病因及预防方案研究

• 批准号: 12670348
• 负责人: IIJIMA Hiroyuki
• 金额: $ 2.05万
• 依托单位: Yamanashi Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12670348/
• 关键词: Myocilin; MYOC; Primary Open Angle Glaucoma; Normal Tension Glaucoma; Genetic Analysis; PCR-SSCP; Mutation; Japanese; PCR-SSCP法

The myocilin gene was identified as a gene (MYOC) that caused open angle glaucoma. Single strand conformation polymorphism analysis and subseauent sequence analysis were performed for genotyping the myocilin gene in 119 unrelated Japanese patients with primary open angle glaucoma (POAG), 114 patients withnormal tension glaucoma (NTG), and 100 control subjects without glaucoma. Nine sequence changes, including 5 amino acid sequence changes, were identified : Promotorl-83 G→A (10 POAG, four NTG, seven control), Arg46Stop (one NTG), Arg76Lys (10 POAG, fourNTG, seven control), Thrl23Thr (one POAG, one control), Argl58Gln (one POAG, one NTG, one control), Asp20.8Glu (three POAG, four NTG, one control), Pro481Ser (one control), Ala488Ala (one POAG, two control), 1515+20 G→A. (one NTG).Pro481Serwasnovel. Arg46Stopwas found inonly 1 patient withNTG in this study. However, the subjects without glaucoma, who were heterozygous or homozygous for Arg46Stop, were previously reported.Arg76Lys is cons … More idered to be a non-disease-causing polymorphism and always occurred with the 1-83 (G→A) in the promoter region. This haplotype may be specific to the Asian population. Argl58Gln is an only missense sequence change found in the leucine zipper-like motif region of the myocilin in subjects showing various phenotypes. Argl58Gln is probably a rare nondisease-causing polymorphism, because it was found in a control subject, although Argl58Gln Was previously reported as a probable disease-causing mutation. When the patients with open angle glaucoma were compared with control subjects, there was a trend toward an association of Asp208Glu with the presence of glaucoma.Interestingly, the combination of Asp208Glu and Pro481Serwas only found in a control. The interaction of Pro481Ser might have a protective effect. However, it was reported that Asp208Glu was found in five of 100 unrelated control subjects without glaucoma, which suggests that Arg208Glu is probably -a nondisease-causing polymorphism. Less

肌动蛋白基因被鉴定为引起开角青光眼的基因（MYOC）。进行了单链构象多态性分析和下序序列分析，用于在119名无关的日本原发角青光眼（POAG），114例正常张力青光难瘤（NTG）的患者和100名没有青光眼的对照组的患者中，对肌动蛋白基因进行了基因分型。确定了九个序列的变化，包括5个氨基酸序列变化：启动器-83 g→A（10个POAG，四个NTG，7个对照），Arg46stop（一个NTG），Arg76lys（10 POAG，四个NTG，7个对照），Thrl23th，Thrl23ThR（一个POAG，一个POAG，一个控制），Argl58Gln（一个POAG）（一个POAG），一个POAG，一个POAG，一个POAG，一个COAG，一个POAG，ntln（一个控制），ntln（一个poag），ntln（一个控制）， （三个POAG，四个NTG，一个控件），Pro481ser（一个控件），Ala4888ala（一个POAG，两个控制），1515+20 g→a。 （一个NTG）.pro481serwasnovel。在这项研究中，ARG46STOPWAS发现了1名NTG患者。然而，先前报道了没有青光眼的受试者，这些受试者是杂合子或纯合的。arg76lys是缺点……更多地认为是一种非疾病引起的多态性，并且始终发生在启动子区域的1-83（g→a）。这种单倍型可能针对亚洲人口。 ARGL58GLN是在显示各种表型的受试者中，在肌动蛋白的亮氨酸拉链样基序区域中发现的唯一的错义序列变化。 ARGL58GLN可能是罕见的引起非疾病的多态性，因为它是在对照组中发现的，尽管以前曾报道过Argl58GLN是引起疾病的引起疾病的突变。当将具有对照组受试者的开头青光眼的患者进行比较时，ASP208GLU与存在青光眼的存在的趋势是一种趋势。从而，ASP208GLU和PRO481SERWA的组合仅在对照中发现。 Pro481ser的相互作用可能具有保护作用。然而，据报道，在没有青光眼的100名无关的对照受试者中，有5名ASP208GLU被发现，这表明ARG208GLU可能是-Nondisease的多态性。较少的

项目成果

Fumihiko Mabuchi: "Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Geneties. 59 (4). 263-268 (2001)

Fumihiko Mabuchi：“日本正常眼压性青光眼和原发性开角型青光眼患者肌纤蛋白基因突变分析”临床遗传学。

Fumihiko Mabuchi: "Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Genetics. 59(4). 263-268 (2001)

Fumihiko Mabuchi：“日本正常眼压性青光眼和原发性开角型青光眼患者肌纤蛋白基因突变分析”临床遗传学。

Fumihiko Mabuchi: "A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein"Journal of Human Genetics. 46(2). 85-89 (2001)

Fumihiko Mabuchi：“MYOC/TIGR 蛋白亮氨酸拉链样基序区域的序列变化 (Arg158Gln)”人类遗传学杂志。

Fumihiko Mabuchi,Zentaro Yamagata,Kenji Kashiwagi,Kiyotaka Ishijima,Sa Tang,Hiroyuki Iijima,Shigeo Tsukahara: "A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein"Journal of Human Genetics. 46(2). 85-89 (2001)

Fumihiko Mabuchi、Zentaro Yamagata、Kenji Kashiwagi、Kiyotaka Ishijima、Sa Tang、Hiroyuki Iijima、Shigeo Tsukahara：“MYOC/TIGR 蛋白亮氨酸拉链样基序区域的序列变化 (Arg158Gln)”人类遗传学杂志。

Fumihiko Mabuchi,Zentaro Yamagata,Kenji Kashiwagi,Sa Tang,Hiroyuki Iijima,Shigeo Tsukahara: "Analysis of MYOC/TIGR gene mutations in Japanese patients with normal tension glaucoma and primary open angle glaucoma"Clinical Genetics. 59(in press). (2001)

Fumihiko Mabuchi、Zentaro Yamagata、Kenji Kashiwagi、Sa Tang、Hiroyuki Iijima、Shigeo Tsukahara：“日本正常眼压性青光眼和原发性开角型青光眼患者 MYOC/TIGR 基因突变分析”临床遗传学。