发明名称 DIAGNOSIS OF GLAUCOMA
摘要 Methods are described for assessing an individual's risk for developing early­-onset glaucoma, for developing glaucoma with a high intraocular pressure at onset of disease, or for developing glaucoma with a high visual field score and/or a high cup/disk ratio, by assessing the ApoE alleles and/or the ApoE gene promoter alleles of the individual. In individuals carrying mutations in the TIGR gene, the presence of an ApoE4 allele is indicative of an increased risk of developing early-onset glaucoma. In individuals carrying mutations in the TIGR gene promoter, the presence of an ApoE4 allele is indicative of a decreased risk of developing glaucoma with a high intraocular pressure at onset of disease. The combination of an ApoE4 allele and a "T" allele of an ApoE gene promoter (at -491) in an individual carrying a mutation in the TIGR gene is also indicative of an increased risk of developing early-onset glaucoma. The presence of a "T" allele of an ApoE gene promoter at (-491), regardless of whether a mutation in the TIGR gene is present or absent, is indicative of an increased risk of developing glaucoma with a high intraocular pressure at onset of disease. The presence of an ApoE(-219G) gene promoter allele is indicative of an increased risk of developing glaucoma with a high visual field score, high cup/disk ratio, or both.
申请公布号 WO03096971(A2) 申请公布日期 2003.11.27
申请号 WO2003US14074 申请日期 2003.05.06
申请人 INSTITUTE NATIONAL DE LA SANTE ET DE LA RECHERCHE;INSITE VISION INCORPORATED;GARCHON, HENRI-JEAN 发明人 GARCHON, HENRI-JEAN
分类号 C12Q1/68 主分类号 C12Q1/68
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