BestSeq^(TM)技术在进行性肌营养不良症基因突变检测中的应用

Application of BestSeq^(TM) technology in the genetic mutation detection of progressive muscular dystrophy

目的应用BestSeq^(TM)新一代致病基因检测技术对进行性肌营养不良患者进行基因检测,验证该方法的敏感度和特异性。方法应用BestSeq^(TM)新一代致病基因检测技术,对2例肢带型肌营养不良患者、6例杜氏肌营养不良患者进行基因测序,对发现的点突变应用Sanger测序进行验证。结果研究完成了上述8例患者的基因检测,共检测出大片段缺失变异2个,微小突变10个,其中8个微小突变为首次发现的新突变,经Sanger测序验证。结论 BestSeq^(TM)新一代致病基因检测利用高密度叠瓦式探针及多重标签技术大大提高了检测效率,具有很好的临床应用前景。

Objective To apply the BestSeq^（TM） new generation pathogenic gene detection technology to perform the genetic detection in the patients with progressive muscular dystrophy（PMD）validating its sensitivity and specificity.Methods The BestSeq^（TM） new generation pathogenic gene detection technology was used to perform the gene sequencing in 2cases of limb-girdle muscular dystrophy（LGMD）and 6cases of Dunchenne′s muscular dystrophy（DMD）,and the found point mutations were confirmed by the Sanger sequencing method.Results This study completed the genetic detection in above 8cases,2cases of large fragment deletion and 10 cases of micromutations were detected,in which 8micromutations were the new mutation discovered ffor the first time and verified by the Sanger sequencing.Conclusion The BestSeq^（TM） new generation pathogenic gene detection technology greatly increases the detection efficiency by using the high density imbricate type probe and multiple tag technology,and has the better clinical application prospects.