首页> 外国专利> Novel mutations in the FREAC3 gene for diagnosis and prognosis of glaucoma and anterior segment dysgenesis

Novel mutations in the FREAC3 gene for diagnosis and prognosis of glaucoma and anterior segment dysgenesis

机译:FREAC3基因的新型突变,用于青光眼的诊断和预后以及前节发育不全

摘要

A method for diagnosing a mammal for an increased likelihood of developing a disease of the eye or having a developmental defect comprises analyzing a nucleic acid to determine whether it contains a mutation that encodes a mutant FREAC3 polypeptide. The presence of the mutation indicates that the mammal has an increased likelihood of developing a disease of the eye of having a developmental defect. Also described is a nucleic acid encoding a mutant FREAC3 polypeptide and a cultured cell containing the nucleic acid. A nucleic acid that encodes wild-type FREAC3 polypeptide can be used in the treatment of a disease of the eye.
机译:一种用于诊断哺乳动物患眼病或患有发育缺陷的可能性增加的方法,包括分析核酸以确定其是否含有编码突变FREAC3多肽的突变。突变的存在表明哺乳动物罹患具有发育缺陷的眼病的可能性增加。还描述了编码突变的FREAC3多肽的核酸和含有该核酸的培养细胞。编码野生型FREAC3多肽的核酸可用于治疗眼疾。

著录项

  • 公开/公告号NZ507787A

    专利类型

  • 公开/公告日2003-08-29

    原文格式PDF

  • 申请/专利权人 UNIVERSITY OF ALBERTA;

    申请/专利号NZ19990507787

  • 申请日1999-04-16

  • 分类号C12Q1/00;A61P27/06;A61K38/16;

  • 国家 NZ

  • 入库时间 2022-08-22 00:01:44

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