An evaluation of carrier detection for Spinal muscular atrophy using digital PCR assay.
10.3760/cma.j.cn511374-20230207-00058
- Author:
Yousheng YAN
1
,
2
;
Chianru TAN
;
Meng ZHANG
;
Fang WANG
;
Yipeng WANG
;
Xinwen CHEN
;
Chenghong YIN
;
Yong GUO
Author Information
1. Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100026, China. yongguo@tsinghua.edu.cn
2. yinchh@ccmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Humans;
Female;
Pregnancy;
DNA Copy Number Variations;
Reproducibility of Results;
Muscular Atrophy, Spinal/genetics*;
Polymerase Chain Reaction/methods*;
Nucleic Acid Amplification Techniques;
Survival of Motor Neuron 1 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2024;41(1):20-24
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the effectiveness and feasibility of carrier detection for Spinal muscular atrophy (SMA) by using digital PCR assay.
METHODS:Peripheral blood samples were collected from 214 pregnant women who were routinely screened for SMA carriers, of which 204 were randomly selected samples and 10 were samples with known copy numbers of SMN1 exons 7 and 8. Samples with known copy numbers of SMN1 exons 7 and 8 were randomly mixed into the experiment to validate the performance of the digital PCR assay.
RESULTS:The copy numbers of SMN1 exons 7 and 8 and SMN2 exons 7 and 8 in peripheral blood samples were detected by digital PCR assay. The results of SMN1 exons 7 and 8 were compared with those of the quantitative PCR method to assess the reliability and clinical performance of the digital PCR assay. Among the 204 random samples, digital PCR has detected five samples with simultaneous heterozygous deletion of SMN1 exons 7 and 8, three samples with heterozygous deletion of SMN1 exon 8 only, and 196 samples with no deletion of SMN1 exons 7 and 8. Ten samples with known SMN1 exons 7 and 8 copy numbers were detected with the expected values. The digital PCR test results were fully consistent with that of the quantitative PCR.
CONCLUSION:The results of digital PCR for the detection of copy number variation of SMN1 exons 7 and 8 were consistent with qPCR. Digital PCR assay was able to clearly distinguish the copy number of the target genes, therefore can be used for SMA carrier screening. Moreover, it can also detect copy number of SMN2 exons 7 and 8, which can provide more information for genetic counseling.
