Science (New York, N.Y.) · 1997
Identification of a gene that causes primary open angle glaucoma.
СтатьяПоддержка исследования: вне правительства СШАПоддержка службы здравоохранения СШАНазвание и аннотация: Перевод пока не подготовлен
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Stone E M, Fingert J H, Alward W L, Nguyen T D, Polansky J R, Sunden S L, Nishimura D, Clark A F, Nystuen A, Nichols B E, Mackey D A, Ritch R, Kalenak J W, Craven E R, Sheffield V C
Аннотация
Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.
Предметные рубрики MeSH
Base SequenceChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 1Cytoskeletal ProteinsEye ProteinsFemaleGenetic LinkageGlaucoma, Open-AngleGlycoproteinsHaplotypesHumansMaleMolecular Sequence DataMutationPedigreePolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalSequence Tagged SitesTrabecular MeshworkMyocilin