Application of CNVPLUS ?-array custom microarray in genetic analysis of Spinal muscular atrophy
10.3760/cma.j.cn511374-20240320-00182
- VernacularTitle:CNVPLUS ?-array定制芯片在脊肌萎缩症基因检测中的应用
- Author:
Tingting YANG
1
;
Caiqin GUO
;
Danfeng FANG
;
Yi LIU
;
Yongguo YU
Author Information
1. 上海交通大学医学院附属新华医院儿内分泌与遗传代谢科 上海市儿科医学研究所，上海 200092
- Keywords:
CNVPLUS ?-array custom-made microarray;
Copy number variation;
SMN1 gene;
[2+ 0] genotype carrier
- From:
Chinese Journal of Medical Genetics
2024;41(9):1124-1130
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To assess the application value of CNVPLUS ?-array for the genetic analysis of spinal muscular atrophy (SMA). Methods:From June 2021 to December 2022, CNVPLUS ?-array technique was employed to test the SMN1 and SMN2 genes among peripheral blood samples from 17 suspected SMA patients, 18 core families with suspected SMA, and 25 healthy individuals. The results were compared with those of multiple ligation-dependent probe amplification (MLPA) assay. Samples with inconsistent results were subjected to nested PCR or comprehensive analysis of SMA. This study was approved by the Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (Ethics No. XHEC-D-2024-038). Results:CNVPLUS ?-array has identified 35 SMA patients, 36 carriers, and 25 healthy individuals. In comparison, MLPA has identified 34 SMA patients, 36 carriers, and 26 healthy individuals. The two methods demonstrated a high consistency ( Kappa = 0.968, P<0.001). Additionally, CNVPLUS ?-array has identified one patient with compound heterozygous variants of SMN1 and one carrier with a [2+ 0] genotype. Conclusion:CNVPLUS ?-array not only can accurately determine the copy numbers of SMN1 and SMN2 genes, but also identify point mutations in SMN1 and [2+ 0] carriers, which has offered a new method for the genetic testing of SMA.
