荧光PCR-毛细管电泳法在人运动神经元存活基因1和运动神经元存活基因2检测中的应用  

PCR-based capillary electrophoresis(PCR/CE)for genetic detection of SMN 1 and SMN 2

作　　者：李少英[1] 何健淳 赵耿烨 冼嘉嘉[1] 黄玲玲 何文智[1] 马晓燕[1] 张慧敏[1] 张敏聪 黎青[1] LI Shaoying;HE Jianchun;ZHAO Gengye;XIAN Jiajia;HUANG Lingling;HE Wenzhi;MA Xiaoyan;ZHANG Huimin;ZHANG Mincong;LI Qing(Department of Obstetrics and Gynecology,Guangdong Provincial Key Laboratory of Major Obstetric Diseases,Experimental Department of Obstetrics and Gynecology Institute,the Third Affiliated Hospital of Guangzhou Medical University,Guangzhou 510150,China)

机构地区：[1]广州医科大学附属第三医院妇产科,广东省产科重大疾病重点实验室,妇研所实验部,广州510150

出　　处：《实用医学杂志》2023年第23期3127-3131,共5页The Journal of Practical Medicine

基　　金：广东省基础与应用基础研究基金项目(编号:2021A1515220152)。

摘　　要：目的建立荧光PCR-毛细管电泳(PCR/CE)方法,检测人运动神经元存活基因1(SMN1)和运动神经元存活基因2(SMN2),评价其性能。方法采用PCR/CE方法和SMA基因诊断的金标准多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA),同步盲法对样本进行检测。以MLPA检测结果为标准,检测PCR/CE方法的性能。结果本次共纳入样本336例,其中纯合缺失型50例(14.9%),杂合缺失型65例(19.3%),无缺失型221例(65.8%)。PCR/CE方法检出SMN1和SMN2拷贝数为0、1、2、3、≥4的结果与MLPA方法检测结果完全一致。结论PCR/CE方法用于SMA相关的基因检测,可准确检出SMN1和SMN2基因第7号外显子和第8号外显子拷贝数(0、1、2、3、≥4)。Objective To establish a PCR-based capillary electrophoresis(PCR/CE)to detect Survival Motor Neuron 1(SMN1)and Survival Motor Neuron 2(SMN2)genes and to evaluate its performance.Methods PCR/CE and Multiplex Ligation-dependent Probe Amplification(MLPA)for SMA gene diagnosis were used to blindly test the samples in sync.The performance of PCR/CE was assessed using MLPA results as the standard.Results A total of 336 samples were included in this study,consisting of 50 homozygous deletion types(14.9%),65 heterozygous deletion types(19.3%),and 221 non-deletion types(65.8%).The results of PCR/CE for detect⁃ing SMN1 and SMN2 copy numbers(0,1,2,3,≥4)were in complete agreement with the results of the MLPA.Conclusions PCR/CE for gene testing related to SMA could accurately detect copy numbers of exon 7 and exon 8 of the SMN1 and SMN2 genes(0,1,2,3,≥4).

关 键 词：脊肌萎缩症 运动神经元存活基因1 运动神经元存活基因2 基因诊断 

分 类 号：Q3-3[生物学—遗传学]