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- W3030379314 abstract "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(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(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。" @default.
- W3030379314 created "2020-06-05" @default.
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- W3030379314 date "2004-10-15" @default.
- W3030379314 modified "2023-09-25" @default.
- W3030379314 title "Study on single nucleotide polymorphism of OPTN gene in a family with primary open angle glaucoma" @default.
- W3030379314 doi "https://doi.org/10.3760/cma.j.issn.2095-0160.2004.05.022" @default.
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