Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
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DOI：
10.1076/opge.24.3.153.15610
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发表时间：
2003-09-01
影响因子：
1.2
通讯作者：
Belmouden, Ahmed
中科院分区：
文献类型：
--
作者：
Melki, Rahma;Idhajji, Abderrahmane;Belmouden, Ahmed
目得：目的：研究摩洛哥原发性开角型青光眼（primary open-angle glaucoma，POAG）患者Myocilin（MYOC）基因的突变和多态性。使用变性高效液相色谱法（DHPLC）筛选MYOC编码区（包括外显子I、外显子II和外显子III的编码部分）的序列改变。对变体扩增子进行双向测序。结果：在1例POAG患者中发现1个致病突变T377 M。此外，在患者和对照组中检测到10个多态性，即P13 P、R76 K、R82 H、G122 G、T135 I、L159 L（通常与P13 P相关）、T285 T、T325 T、Y347 Y和E396 E。Q368 X突变，已记录在高加索POAG patients.CONCLUSIONS：MYOC是一种罕见的严重POAG在摩洛哥的遗传原因。POAG相关Q368 X突变的缺失以及特定多态性（包括P13 P + L159 L和T325 T）的存在可能是非洲人群MYOC序列的特定特征。
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, 10 polymorphisms, namely P13P, R76K, R82H, G122G, T135I, 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.