학술논문
PCR-based capillary electrophoresis (PCR/CE) for genetic detection of SMN 1 and SMN 2.
Document Type
Article
Author
Source
Subject
*CAPILLARY electrophoresis
*MOTOR neurons
*SPINAL muscular atrophy
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Language
Chinese
ISSN
1006-5725
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 detecting 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). [ABSTRACT FROM AUTHOR]