首页> 外国专利> GENE RELATED WITH OPEN-ANGLE GLAUCOMA INCLUDING NORMAL TENSION GLAUCOMA

GENE RELATED WITH OPEN-ANGLE GLAUCOMA INCLUDING NORMAL TENSION GLAUCOMA

机译:与开角型青光眼有关的基因,包括正常张力性青光眼

摘要

PROBLEM TO BE SOLVED: To provide a method for searching an abnormal gene related to the open-angle glaucoma including the normal tension glaucoma, and to provide a method for preparing a kit for detecting the gene. SOLUTION: A polynucleotide having a substitution from thymine (T) to cytosine (C) at 153rd base in myocilin gene as a gene related to glaucoma, was identified. Primers or a probe having specific base sequence(s) can be used to detect these polynucleotides. A kit using the above primers or a probe can also be provided. Such a kit permits detecting the open-angle glaucoma including the normal tension glaucoma much more frequently than hither-to- reported glaucoma-related gene(s), screening a family that is suspected to have the hereditary glaucoma and a carrier in whom glaucoma is not appeared yet, and pregnosing the open-angle glaucoma including the normal tension glaucoma for the first time.
机译:解决的问题:提供一种搜索与包括正常张力性青光眼在内的开角型青光眼有关的异常基因的方法,并提供一种制备用于检测该基因的试剂盒的方法。解决方案:鉴定了在与青光眼有关的基因myocilin基因的第153位碱基处具有从胸腺嘧啶(T)到胞嘧啶(C)取代的多核苷酸。可以使用具有特定碱基序列的引物或探针来检测这些多核苷酸。也可以提供使用上述引物或探针的试剂盒。这样的试剂盒比迄今报道的与青光眼相关的基因可以更频繁地检测包括正常张力性青光眼在内的开角型青光眼,筛查怀疑患有遗传性青光眼的家庭以及携带青光眼的携带者尚未出现,并首次诊断包括正常张力性青光眼在内的开角型青光眼。

著录项

  • 公开/公告号JP2002306165A

    专利类型

  • 公开/公告日2002-10-22

    原文格式PDF

  • 申请/专利权人 TSUBOTA:KK;HATTORI YUKIO;SUZUKI AKIRA;

    申请/专利号JP20000144492

  • 发明设计人 HATTORI YUKIO;SUZUKI AKIRA;

    申请日2000-05-17

  • 分类号C12N15/09;C12Q1/68;

  • 国家 JP

  • 入库时间 2022-08-22 00:58:28

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