Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation
نویسندگان
چکیده
منابع مشابه
Comprehensive analysis of myocilin variants in east Indian POAG patients
PURPOSE Mutations in the myocilin gene (MYOC) account for 2%-4% of primary open angle glaucoma (POAG) cases. To date, a limited number of Indian POAG patients have been analyzed for the contribution of the gene towards the disease pathogenesis. In this study we provided a comprehensive analysis of a total of 765 eastern Indian POAG patients. METHODS In the present study 450 POAG patients and ...
متن کاملMyocilin Polymorphisms and Primary Open-Angle Glaucoma: A Systematic Review and Meta-Analysis
BACKGROUND Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations. METHODS A meta-analysis of 32 published genetic association case-control studies, which examined the rel...
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 کاملRapid 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...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2003
ISSN: 1059-7794
DOI: 10.1002/humu.9165