中文摘要：

目的探讨高通量测序技术与多重连接探针依赖扩增（MLPA）技术检测周围神经髓鞘蛋白22基因（PMP22）全基因突变中的应用比较。方法收集5例拟诊为腓骨肌萎缩症1型（CMT1）/遗传性压迫易感性神经病（HNPP）患者的外周血标本,采用高通量测序技术进行PMP22基因检测。结果高通量测序技术检测的基因全长捕获测序分析发现PMP22基因缺失突变1例,重复突变3例,所得结果与MLPA检测结果一致;点突变1例与一代测序（Sanger测序）结果一致。结论应用高通量测序技术不仅能准确检测出PMP22基因点突变,还能检出外显子缺失和重复突变,为CMT1和HNPP患者的早期诊断、鉴别诊断、预后判断及产前诊断提供遗传学帮助,成为一站式PMP22基因检测平台。

英文摘要：

Aim To find out the application and effectiveness of high-throughput sequencing method,a next generation sequencing（NGS） method in screening the peripheral myelin protein 22（PMP22） gene mutation.Methods The peripheral blood collected from five enrolled patients suspected of Charcot-MarieTooth disease（CMT） type 1 were detected by high-throughput sequencing of PMP22.Results The results of 1 case of PMP22 deletion mutation and 3 cases of PMP22 duplication mutation by NGS,were the same results as with multiplex ligation-dependent probe amplification（MLPA）.The result of 1 case of PMP22 point mutation was accordance with the result by Sanger method.Conclusion NGS method can be not only applied to the exact analysis for deletion or duplication mutation of PMP22,but also applied to PMP22 point mutation detection,which is convenient and helpful for early confirmation of CMT1A/hereditary neuropathy with liability to pressure palsies（HNPP） and prognosis evaluation,prenatal diagnosis.And NGS will become a one-stand genetic screen method.