荧光定量PCR快速筛查脊髓性肌肉萎缩症smn1致病基因携带者

Application of real-time quantitative polymerase chain reaction rapid screening in spinal muscular atrophy smn1 gene carrier

目的采用荧光定量聚合酶链式反应(PCR)技术检测脊髓性肌肉萎缩症(SMA)运动神经元生存基因1(smn1)基因拷贝数,快速筛查SMA致病基因携带者。方法采用荧光定量PCR技术检测经多重连接探针扩增技术(MLPA)确认的21例SMA携带者、79例健康人群标本,及另200例本地人群标本。结果 21例SMA携带者及79例健康人群标本检测结果与MLPA符合率均达100.0%;200例本地人群标本中,4例smn1基因拷贝数为1(为携带者),占2.0%;173例smn1基因拷贝数为2,占86.5%;23例smn1基因拷贝数为3,占11.5%。结论荧光定量PCR技术是1种快速、简便和准确的SMA致病基因携带者检测技术。

Objective To explore the potential of real-time quantitative PCR rapid screening in detecting spinal muscular atrophy（SMA）smn1gene copy numbers and SMA carrier.Methods Twenty one carriers and 79 healthy controls confirmed by multiplex ligation-dependent probe amplification（MLPA）and 200 healthy adults were detected by real-time quantitative PCR.Results Coincidence rate of results of 21 carriers and 79 healthy controls detected by MLPA and real-time PCR were 100.0%.Of 200 healthy adults,4cases had 1copy of smn1,which accounted for 2.0%.And 173 had 2copy of smn1,which accounted for 86.5%.In addition,23 had 3copy of smn1,which accounted for 11.5%.Conclusion Real-time quantitative PCR is a fast,easy and accuracy technology for SMA carrier detection.