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| Application study of SMA genetic screening and diagnostic techniques |
| 1. Center for Disease Control and Prevention of Hanyang District, Wuhan, Hubei Province, 430051；2. Wuhan Children’s Hospital Affiliated to Tongji Medical College of Huazhong University of Science & Technology, Wuhan Maternal and Child Health Care Hospital, Wuhan |
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Abstract To conduct the genetic diagnosis and prenatal diagnosis of 10 patients with spinal muscular atrophy (SMA) from Chinese families, and to provide reference for the clinical screening and diagnosis of patients with SMA. Methods: The clinical data, and the peripheral blood and amniotic fluid samples of the patients with SMA and their parents were collected. DNA was extracted from these samples. The gene mutations of the patients were detected by quantitative real-time PCR (qPCR), and the results were verified by multiple ligated probe amplification (MLPA). Results: The results of qPCR showed that all the patients had homozygous deletion of exon 7 of SMN1 gene, and their parents had heterozygous deletion of exon 7. The results of MLPA showed that all the patients had homozygous deletion of exon 7 and 8 of SMN1 gene, and their parents had heterozygous deletion of exon 7 and 8 of SMN1 gene. In the amniotic fluid samples, there was 1 case with homozygous deletion of exon 7 and 8 of SMN1 gene, 2 cases with heterozygous deletion of exon 7 and 8 of SMN1 gene, and 1 case without deletion of exons 7 and 8 of SMN1 gene. Conclusion: qPCR is a simple, rapid, and economical method for detecting the gene mutations, and which is a stable method for preliminary diagnosis and mass screening of SMA. The combined application of qPCR and MLPA is the high efficient, economical, and stable genetic diagnosis method for SMA of the patients.
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