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Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy

Authors
 Sunggyun Park  ;  Hyeonah Lee  ;  Saeam Shin  ;  Seung-Tae Lee  ;  Kyung-A Lee  ;  Jong Rak Choi 
Citation
 CLINICA CHIMICA ACTA, Vol.510 : 787-789, 2020-11 
Journal Title
 CLINICA CHIMICA ACTA 
ISSN
 0009-8981 
Issue Date
2020-11
Keywords
Copy number analysis ; Digital PCR ; MLPA ; Spinal muscular atrophy
Abstract
Background: Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by homozygote loss of exon 7 on the survival motor neuron 1 (SMN1) gene. The severity of the SMA phenotype is influenced by copies of SMN2, a gene that is highly homologous with SMN1. Methods: We validated analytical performance of droplet digital polymerase chain reaction (ddPCR) for detection of copy number variation of SMN1 and SMN2 genes for diagnosis of SMA using clinical samples. For accuracy performance evaluation, ddPCR results were compared with those of multiplex ligation-dependent probe amplification (MLPA) as a reference standard. Copy numbers of SMN1/SMN2 exon 7 from 200 clinical samples were concordant between ddPCR and MLPA. Results: For all samples, the copy number of SMN1/SMN2 exon 7 was concordant between MLPA and ddPCR. The ddPCR also showed acceptable degrees of repeatability and total imprecision. Conclusion: Therefore, ddPCR is expected to be useful for SMA diagnosis and to predict phenotypic severity of SMA patients by determining the copy number of SMN2 in clinical laboratories.
Full Text
https://www.sciencedirect.com/science/article/pii/S0009898120304563
DOI
10.1016/j.cca.2020.09.024
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Shin, Saeam(신새암) ORCID logo https://orcid.org/0000-0003-1501-3923
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/180122
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