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

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。

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

Objective To explore the potential of real‐time quantitative PCR rapid screening in detecting spinal muscular atrophy (SMA) smn1 gene 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 Coin‐cidence rate of results of 21 carriers and 79 healthy controls detected by MLPA and real‐time PCR were 100 .0% .Of 200 healthy a‐dults ,4 cases had 1 copy of smn1 ,which accounted for 2 .0% .And 173 had 2 copy of smn1 ,which accounted for 86 .5% .In addi‐tion ,23 had 3 copy of smn1 ,which accounted for 11 .5% .Conclusion Real‐time quantitative PCR is a fast ,easy and accuracy tech‐nology for SMA carrier detection .