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Abstract #9716 Published in IGR 5-3
Mutational analysis of the myocilin gene in patients with primary open-angle glaucoma in Morocco
Melki R; Idhajji A; Driouiche S; Hassani MI; Boukabboucha A; Akhayat O; Garchon HJ; Belmouden AOphthalmic Genetics 2003; 24: 153-160
PURPOSE: To investigate the myocilin (MYOC) gene for mutations and polymorphisms in patients with primary open-angle glaucoma (POAG) in Morocco. METHODS: Fifty-seven patients with severe POAG, who suffered from complete or almost complete visual field loss, were included in the study. The MYOC coding region, including exon I, exon II, and the coding part of exon III, were screened for sequence alteration using denaturing high-performance liquid chromatography (DHPLC). Variant amplicons were sequenced bidirectionally. The control group consisted of 60 subjects from the general population. RESULTS: One disease-causing mutation, T377M, was observed in one POAG patient. In addition, ten polymorphisms, namely P13P, R76K, R82H, G122G, T1351, L159L (often associated with P13P), T285T, T325T, Y347Y, and E396E, were detected in patients or in controls. The Q368X mutation that has been documented in Caucasian POAG patients was absent. CONCLUSIONS: MYOC is an infrequent genetic cause of severe POAG in Morocco. The absence of the POAG-associated Q368X mutation and the presence of particular polymorphisms, including P13P + L159L and T325T, could be specific features of the MYOC sequence in African populations.
Dr. H.J. Garchon, INSERM U25, 161 rue de Sevres, 75743 Paris Cedex 15, France
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
