Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma
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چکیده
منابع مشابه
Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.
AIMS To rapidly screen Scottish patients with a family history of open angle glaucoma (OAG) or ocular hypertension (OHT) for mutations in the myocilin gene (MYOC) and develop a new rapid screening method for MYOC mutation detection. METHODS All three exons of the MYOC gene were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Mutation detection methodology was also de...
متن کاملCLINICAL SCIENCE Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma
Aims: To rapidly screen Scottish patients with a family history of open angle glaucoma (OAG) or ocular hypertension (OHT) for mutations in the myocilin gene (MYOC) and develop a new rapid screening method for MYOC mutation detection. Methods: All three exons of the MYOC gene were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Mutation detection methodology was also de...
متن کاملOcular pulse amplitude in patients with open angle glaucoma, normal tension glaucoma, and ocular hypertension
Background/aim: Intraocular pressure (IOP) is not a fixed constant value but rather has pulsatile components associated with cardiac action. The SmartLens dynamic observing tonometer (odc, Ophthalmic Development Company AG, Zurich, Switzerland) can measure and record simultaneously IOP and ocular pulse amplitude (OPA). It was the aim of this study to evaluate OPA in patients with primary open a...
متن کاملMutations in MYOC gene of Indian primary open angle glaucoma patients.
PURPOSE Glaucoma is the second leading cause of blindness worldwide after cataract. Defects in the myocilin gene (MYOC) have been shown to be associated with Primary Open Angle Glaucoma (POAG), the most common form of the disease, especially in its juvenile form. Most of the reported mutations in MYOC are in POAG patients of Caucasian origin. A few studies have been reported on Asian patients (...
متن کاملNovel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal ch...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2002
ISSN: 0007-1161
DOI: 10.1136/bjo.86.2.191