AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques
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AB140. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques

Thi Phuong Mai Nguyen1, Thi Mai Huong Nguyen1, Manh Tien Ngo1, Thi Thanh Ha Ly1, Thi Tuyet Nhung Ngo1, Thuy Lan An1, Dinh Quang Vu1, Xuan Huy Nguyen1, Diem Ngoc Ngo1, Phuong Thao Bui2, Ngoc Khanh Nguyen2, Chi Dung Vu2, Danh Cuong Tran3

1Human Genetics Department, 2Endocrinology-Metabolic-Genetic Department, National Hospital of Pediatrics, Hanoi, Vietnam; 3National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam

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.

Keywords: Spinal muscular atrophy (SMA); MLPA; PCR-restriction fragment length polymorphism (PCR-RFLP); prenatal diagnosis

Cite this abstract as: Nguyen TP, Nguyen TM, Ngo MT, Ly TT, Ngo TT, An TL, Vu DQ, Nguyen XH, Ngo DN, Bui PT, Nguyen NK, Vu CD, Tran DC. Ten years experiences of diagnosis spinal muscular atrophy using molecular techniques. Ann Transl Med 2015;3(S2):AB140. doi: 10.3978/j.issn.2305-5839.2015.AB140

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