摘要目的 对原发性开角型青光眼(primary open angle glaucoma,POAG)患者的MYOC基因进行变异分析,探讨MYOC基因变异在散发型POAG发病中的作用.方法 应用Sanger测序法对398例散发POAG患者的MYOC基因进行变异分析.结果 在398例POAG患者的8例中检出了5种MYOC基因的变异位点,其中c.667C>T(p.Pro223Ser)、c.1138G>T(p.Asp380Tyr)为未报道过的新变异位点,c.382C>T(p.Arg128Trp)、c.1109C>T(p.Pro370Leu)、c.1130C>A(p.Thr377Lys)为已报道的变异位点,与POAG发病相关.MYOC基因变异位点的检出率为2.0％(8/398).多物种间氨基酸序列分析表明,2个新变异位点均位于高度保守区域.根据ACMG致病性标准分类和功能预测软件分析,推测MYOC基因c.1138G>T变异为可能致病性变异,c.667C>T变异位点的致病意义尚不明确.结论 在散发POAG患者中检出了MYOC基因的2个新变异位点,丰富了MYOC基因的变异谱.

abstractsObjective To screen for MYOC gene variants among sporadic patients with primary open angle glaucoma (POAG).Methods For 398 patients with POAG,Sanger sequencing was applied to detect potential variants of the MYOC gene.Results Eight patients (2.0％)were found to harbor variations of the MYOC gene.These included five types of variants,among which c.667C>T (p.Pro223Ser)and c.1138G>T (p.Asp380Tyr)were novel.c.382C>T (p.Arg128Trp),c.1109C>T (p.Pro370Leu)and c.1130C>A (p.Thr377Lys)were previously associated with POAG.Alignment of amino acid sequences of MYOC proteins of various species revealed that the two novel variants have occurred at highly conserved positions. c.1138G> T was predicted to be possible pathogenic by Bioinformatic analysis.Conclusion Two novel variants of the MYOC gene were detected among sporadic POAG patients,which enriched its variant spectrum.