Molecular genetics & genomic medicine · 2026
Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.
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Wei Hua, Zheng Ya-Wen, Zhang Ning-Ke, Gao Tie-Li, Zheng Jie-Xiang, Li Tian-You, Hong Shu-Rong
Аннотация
OBJECTIVES: To investigate the distribution proportions of the SMN1 gene in spinal muscular atrophy (SMA) using single-molecule real-time sequencing (SMRT), thereby providing supplementary evidence for SMA genotyping.
METHODS: A retrospective analysis was conducted on 771 subjects who underwent both real-time quantitative PCR and SMRT sequencing tests, followed by statistical analysis.
RESULTS: Among the 771 enrolled individuals, the male-to-female ratio was 2:3, with a median age of 31 years. The detection results obtained from real-time quantitative PCR and SMRT sequencing were consistent. Using SMRT sequencing, the proportions of samples with SMN1 copy numbers 1, 2, 3, and 4 were 2.33% (18/771), 91.18% (703/771), 6.36% (49/771), and 0.13% (1/771), respectively. For SMN2, the proportions with 0, 1, 2, 3, and 4 copies were 6.10% (47/771), 33.07% (255/771), 57.59% (444/771), 2.98% (23/771), and 0.26% (2/771), respectively. The carrier frequency of SMN1 deletions was 2.33% (18/771). Additionally, we analyzed four SMA patients using SMRT sequencing. The results demonstrate that this technology accurately detects SMN1 and SMN2 copy numbers, providing essential information for patient diagnosis and clinical management.
CONCLUSION: With results fully concordant with qPCR, SMRT sequencing enables accurate detection of SMN1 and SMN2 copy numbers, providing robust technical support for population-based prevention, genetic counseling, and clinical management of SMA.
METHODS: A retrospective analysis was conducted on 771 subjects who underwent both real-time quantitative PCR and SMRT sequencing tests, followed by statistical analysis.
RESULTS: Among the 771 enrolled individuals, the male-to-female ratio was 2:3, with a median age of 31 years. The detection results obtained from real-time quantitative PCR and SMRT sequencing were consistent. Using SMRT sequencing, the proportions of samples with SMN1 copy numbers 1, 2, 3, and 4 were 2.33% (18/771), 91.18% (703/771), 6.36% (49/771), and 0.13% (1/771), respectively. For SMN2, the proportions with 0, 1, 2, 3, and 4 copies were 6.10% (47/771), 33.07% (255/771), 57.59% (444/771), 2.98% (23/771), and 0.26% (2/771), respectively. The carrier frequency of SMN1 deletions was 2.33% (18/771). Additionally, we analyzed four SMA patients using SMRT sequencing. The results demonstrate that this technology accurately detects SMN1 and SMN2 copy numbers, providing essential information for patient diagnosis and clinical management.
CONCLUSION: With results fully concordant with qPCR, SMRT sequencing enables accurate detection of SMN1 and SMN2 copy numbers, providing robust technical support for population-based prevention, genetic counseling, and clinical management of SMA.