Stone, Edwin M.;
Fingert, John H.;
Nguyen, Thai D.;
Polansky, Jon R.;
Nishimura, Darryl;
Clark, Abbot F.;
Nystuen, Arne;
Nichols, Brian E.;
Mackey, David A.;
Ritch, Robert;
Kalenak, Jeffrey W.;
Craven, E. Randy;
Sheffield, Val C.
Identification of a Gene That Causes Primary Open Angle Glaucoma
Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
Medientyp:
E-Artikel
Titel:
Identification of a Gene That Causes Primary Open Angle Glaucoma
Beteiligte:
Stone, Edwin M.;
Fingert, John H.;
Nguyen, Thai D.;
Polansky, Jon R.;
Nishimura, Darryl;
Clark, Abbot F.;
Nystuen, Arne;
Nichols, Brian E.;
Mackey, David A.;
Ritch, Robert;
Kalenak, Jeffrey W.;
Craven, E. Randy;
Sheffield, Val C.
Erschienen:
American Society for the Advancement of Science, 1997
Beschreibung:
<p>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.</p>