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首页> 外文期刊>Genetic testing and molecular biomarkers >A New Method for FMR1 Gene Methylation Screening by Multiplex Methylation-Specific Real-Time Polymerase Chain Reaction
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A New Method for FMR1 Gene Methylation Screening by Multiplex Methylation-Specific Real-Time Polymerase Chain Reaction

机译：FMR1基因甲基化检测的新方法通过多路复用Methylation-Specific实时聚合酶链反应

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摘要

Fragile X Syndrome (FXS) is the most common form of inherited mental retardation in men. It is caused by abnormalities in the FMR1 gene that are associated with CGG repeat expansion and the hyermethylation status of its promoter. Methylated alleles lead to transcriptional inhibition and consequent loss of Fragile X Mental Retardation Protein. Chemical modification of cytosine to uracil by bisulfite treatment has proved to be an attractive method for DNA methylation studies that precludes labor-intensive Southern blot analysis, which is the gold standard test for FXS. In this report, bisulfite-treated DNA samples were amplified using real-time multiplex methylation-specific polymerase chain reaction followed by melting curve analysis. Our results show that all control samples with known CGG repeat numbers and methylation statuses were correctly diagnosed. The samples from 43 male patients were also successfully diagnosed, which were in complete agreement with the results of Southern blotting. By such means, 39 patients were found to have an unmethylated allele; 3, a fully mutated allele; and 1, both methylated and unmethylated alleles, thus implying a diagnosis of mosaicism. In conclusion, we find our method to be convenient for screening a large number of male patients with FXS, because it is rapid and easy to perform, especially when there is a low quantity of DNA that must be sensitively and accurately assayed.
机译：脆性X综合征(FXS)是最常见的形式继承了智力迟钝的男人。FMR1基因异常引起的与CGG重复扩张和相关hyermethylation状态的启动子。甲基化等位基因转录抑制和顺向脆性X的损失精神发育迟滞的蛋白质。亚硫酸氢的胞嘧啶与尿嘧啶治疗被证明是一个有吸引力的DNA的方法甲基化研究排除了劳动密集型的印迹分析为FXS黄金标准测试。bisulfite-treated DNA样本被放大使用实时多路复用methylation-specific聚合酶链反应融化紧随其后曲线分析。样品与已知CGG重复数字和甲基化状态是正确诊断。43岁男性患者样本成功地诊断,在完成协议的结果,南方的印迹。通过这样的方式,39个病人被发现有一个unmethylated等位基因;1、甲基化和unmethylated等位基因,因此这意味着镶嵌性的诊断。结论,我们发现我们的方法方便筛选大量的男性患者FXS,因为它是快速和容易执行,尤其是当有一个低数量必须敏感和准确的DNA化验。

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