PCR-based capillary electrophoresis(PCR/CE)for genetic detection of SMN 1 and SMN 2
LI Shaoying
HE Jianchun
ZHAO Gengye
XIAN Jiajia
HUANG Lingling
HE Wenzhi
MA Xiaoyan
ZHANG Huimin
ZHANG Mincong
LI Qing
Abstract：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).
Keywords：spinal muscular atrophySMN1 geneSMN2 genegene diagnosis
Publication Date：2023-12-10
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 3127-3131 )