2015•PubMed CentralOpen access
AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques
Nguyen Thi Phuong, Thi Mai Hương Nguyen, Manh Tien Ngo, Thi Thanh Ha Ly, Thi Tuyet Nhung Ngo, Thuy Lan An, Dinh Quang Vu, Xuan Huy Nguyen, Diem Ngoc Ngo, Phuong Bui, Ngoc Khanh Nguyen, Chi Dung Vu, Danh Cuong Tran
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Abstract
BACKGROUND AND OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN). This article aims to identify the deletion exon 7 of SMN1/SMN2 genes in postnatal diagnosis and prenatal diagnosis with spinal muscular atrophy. METHODS: A total of 1,111 patients suspected SMA and 66 pregnant women who had affected children were collected from 2005 to 2015. The deletion of exon 7 SMN1/SMN2 genes was identified by PCR-restriction fragment length polymorphism (RFLP) techniques. RESULTS: We identified a homozygous deletion exon 7 of SMN1 in 353/1,111 (31.77%); 55/1,111 (4.95%) patients had deletion exon 7 of SMN-2 gene. In 66 pregnant women, there is 14/67 (20.9%) fetuses had deletion exon 7 of SMN-1 gene; 2/67 (2.98%) fetuses had deletion exon 7 of SMN-2 gene and 51/67 (76.12%) fetuses had no deletion. CONCLUSIONS: Using molecular techniques to detect the deletion exon 7 of SMN1 gene is useful for postnatal and prenatal diagnosis with SMA.