| 目的 探讨视神经病变诱导基因-OPTN与一原发性开角型青光眼（Primary Open Angle Glaucoma, POAG）家系的关系。方法 通过遗传学调查并对该家系中11例POAG患者和9例一级亲属的OPTN基因进行荧光标记自动测序，寻找OPTN基因4~16外显子的单核苷酸多态性（single nucleotides polymorphism,SNP）,用限制性内切酶分析技术检测32例对照组人群相应的SNP。结果 OPTN基因4~16外显子共检测出5种SNP：412G>A、603T>A、1267-1268ins C并1271-1272ins C、1537-1538ins C和1878-1879ins A。其中除412G>A外，其他突变均将改变氨基酸的编码，和对照人群分布有显著性差异。结论 OPTN基因突变可能是本家系POAG发病的原因之一。
关键词 青光眼 开角型 基因 单核苷酸 多态性
Study on single nucleotide polymorphism of OPTN gene in a family with primary open angle glaucoma. Li Shihong, He Xiangge , etc .Department of Ophthalmology, Daping Hospital, Third Military Medical University, ChongQing 400042, China
Abstract Objective To screen the mutations of 4-16 exons in the optic neuropathy inducing protein gene(OPTN) and investigate the association between the single nucleotide polymorphism（SNP）and primary open angle glaucoma in a Chinese family. Methods Genetic survey and fluorescent labeling automated sequencing method are used to detect the SNPs of OPTN gene in 11 patients with POAG and 9 first-degree relations in the same family. The restriction endonulease analysis was employed to verify the same SNPs in the 32 control subjects without POAG. Results A total of 5 SNP sites were identified in all encoding exon regions of OPTN gene: 412G>A, 603T>A, 1267-1268ins C and 1271-1272ins C, 1537-1538ins and 1878-1879ins A. All the mutations, except the 412G>A, would result in changes of codons in OPTN gene. There were significant differences between the POAG patients and the controls. Conclusion The mutations in OPTN gene may be one of the reasons resulting in POAG in the family. |
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