SMN gene

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China

W. L. Liu, Li, F., He, Z. X., Ai, R., and Ma, H. W., Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China, vol. 12, pp. 3598-3604, 2013.

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of the sequencing peak height of the two different base pairs of exons 7 and 8 between SMN1 and SMN2.

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