Fig. 3.

Functional effects of the variant c.207-1G > T on ST3GAL5 gene transcript. A Results of pcMINI-C vector: In HeLa and 293 T cells, the wild-type had two bands, with the large band consistent with the expected size (716 bp), named band a, and the small band named b. The wild-type bands from the two cell lines were subjected to TA cloning followed by Sanger sequencing. The mutant type in HeLa and 293 T cells had a single band, named band b, and the mutant bands from the two cell lines were subjected to Sanger sequencing. The wild-type strip a is a normal shear strip with Exon A (192 bp)-Exon 3 (112 bp)-Exon 4 (344 bp); the wild-type strip b is an abnormally sheared strip with Exon 3 jumping and Exon A (192 bp)-Exon 4 (344 bp). The mutant strip b is an abnormally sheared strip with Exon 3 jumping, sheared as Exon A (192 bp)-Exon 4 (344 bp). B Results of pcMINI vector: In HeLa and 293 T cells, the wild-type had two bands, with the large band consistent with the expected size (384 bp), named band a, and the small band named b. The wild-type bands from the two cell lines were subjected to TA cloning followed by Sanger sequencing. The mutant type in HeLa and 293 T cells had a single band, named band b, and the mutant bands from the two cell lines were subjected to Sanger sequencing. Wild-type strip a is a normal shear strip with Exon A (192 bp)-Exon 3 (112 bp)-Exon B (57 bp); wild-type strip b is an abnormally sheared strip with Exon 3 jumping and Exon A (192 bp)-Exon B (57 bp). Mutant band b is an abnormally sheared band, Exon 3 jumping, sheared in Exon A (192 bp)-Exon B (57 bp)