PCR-based capillary electrophoresis(PCR/CE)for genetic detection of SMN 1 and SMN 2
10.3969/j.issn.1006-5725.2023.23.018
- VernacularTitle: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
- Author:
Shaoying LI
1
;
Jianchun HE
;
Gengye ZHAO
;
Jiajia XIAN
;
Lingling HUANG
;
Wenzhi HE
;
Xiaoyan MA
;
Huimin ZHANG
;
Mincong ZHANG
;
Qing LI
Author Information
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)
- Keywords:
spinal muscular atrophy;
SMN1 gene;
SMN2 gene;
gene diagnosis
- From:
The Journal of Practical Medicine
2023;39(23):3127-3131
- CountryChina
- Language:Chinese
-
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).
