Fig. 2
From: A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Results of the mini-gene splicing assay. (A) Sanger sequence of minigene in wt and mut group (c. 4298-8 G > A). (B) The agarose gel electrophoresis of RT-PCR fragments showed that the product length was similar between wt and mut groups. (C) The Sanger sequences showed a 6 bp base (AAATAG) retention at the right of intron 46 in the variant group. (D) The schematic diagram showed the minigene comprising exon 46, exon 47, and intron 46 of the wt or mut (c. 4298-8 G > A). The variant c. 4298-8 G > A affected the normal splicing of COL4A5 mRNA resulting in 6 bp base retention at the right of intron 46. “*” represents variant location