Applications of CNVPLUS ?-array in diagnosis of DMD gene
10.3760/cma.j.cn112150-20230726-00034
- VernacularTitle:CNVPLUS ?微阵列芯片在 DMD基因诊断中的应用
- Author:
Caiqin GUO
1
;
Danfeng FANG
;
Tingting YANG
;
Yi LIU
;
Jiayi ZHU
;
Yongguo YU
Author Information
1. 无锡市妇幼保健院（江南大学附属妇产医院）医学遗传与产前诊断科，无锡 214002
- Keywords:
Duchenne muscular dystrophy;
Becker muscular dystrophy;
DMD gene;
CNVPLUS ?-array
- From:
Chinese Journal of Preventive Medicine
2024;58(4):508-515
- CountryChina
- Language:Chinese
-
Abstract:
To explore the value of CNVPLUS ?-array in the diagnosis of the DMD gene. A retrospective study was performed on 96 children who were clinically diagnosed with Duchenne or Becker muscular dystrophies(DMD/BMD) at the Department of Pediatric Endocrinology and Genetics of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine from January 2014 to March 2023. DNA was extracted from these children′s peripheral blood and divided into two parts. Variations of the DMD gene were detected by using CNVPLUS ?-array and sequential testing of MLPA—NGS—Sanger. In the sequential method, single exon deletions detected by MLPA were first verified by polymerase chain reaction (PCR) and then were tested by Sanger′s sequencing if PCR results were normal. The results showed that, among 96 samples, 91 cases with the pathogenic variation of the DMD gene were detected by the CNVPLUS ?-array, including 76 cases with large deletion/duplication (copy number variation, CNV) and 15 cases with small variation (single nucleotide variant or small insertion/deletion, SNV/Indel). All samples were tested and diagnosed within 5 days. In contrast, 76 cases with pathogenic CNV and 20 cases with pathogenic SNV/Indel were detected in the DMD gene by sequential method. However, all of the experiments and diagnoses were completed within 48 days. Moreover, 5 cases with SNV/Indel in the DMD gene were correctly clustered after the operation mode was optimized. In summary, as a new micro-array integrating CNV and SNV probes, CNVPLUS ?-array can detect CNV and SNV/Indel in the DMD gene simultaneously while the application of CNVPLUS ?-array could save a lot of time and manpower. CNVPLUS ?-array had an excellent diagnostic performance for CNV of the DMD gene. As for SNV/Indel, the diagnostic performance was slightly poor and the operation mode should be optimized. If necessary, other testing technologies should be supplemented to reduce the risk of missed diagnosis.
