Fig. 1

The amplification curves of real-time PCR. The threshold of RFU was set to be 10². The red curve represented NAIP exon5; the black curve represented wild type of SMN gene; the blue curve represented mutation type of SMN; the yellow curve represented GTF2H2 exon10, the purple curve represented NAIP exon4 and the green curve represented internal control. a The image represented that the patient was only with heterozygous mutation of SMN and no mutation on NAIP exon5; (b) The image represented that the patient was with homozygous mutation of SMN and no mutation on NAIP exon5; (c) The image represented that the patient was normal for SMN and NAIP exon5; (d) The image represented that the patient was with homozygous mutation of SMN and the deletion of NAIP exon5; (e) The image represented that there was no mutation on GTF2H2 exon10 and NAIP exon4, and internal control was normal; (f) The image represented that the patient was with the deletion of NAIP exon4; (g) The image represented that the patient was with the deletion of GTF2H2 exon10; (h) The image represented that there was no amplification for internal control, and sample should be detected again