Fig. 3
From: Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
The effect of variant c.2020-5G > A of SCN4A on mRNA splicing. (A) A Schematic diagram of the vector constructs; (B) Sequencing results of minigene constructs, UP: wildtype, down: mutation; (C) agarose gel electropherograms after RT-PCR; The bands in 293T and HeLa cells are labeled as a, b; Band a represents the Wild-type fragment with 746bps (normal splicing), band b represents the abnormal splicing fragment with 749bps. Band b was 3 bp larger than band a, indistinguishable after electrophoresis on 1% agarose gel; (D) the sequencing results of the bands after TA cloning correspond to the minigenes; (E) Schematic representation of minigene splicing. Band b is an abnormal band with 3 bp retention to the right of Intron12 and Exon A -▽Intron12 (3 bp) -Exon13-Exon B (749 bps)