Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Mar 2;12:647400. doi: 10.3389/fgene.2021.647400

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

Copyright © 2021 Qian, Wang, Wang, Igelman, Jones, Li, Wang, Goetz, Birch, Yang, Pennesi and Chen.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

PMC Copyright notice

A minigene splicing assay reveals variant-induced aberrant splicing. (A–E) Demonstrate the splicing results of variants identified in patients: (A) MEP337 and DGB289, (B) MEP344, (C) DGB288, (D) NEI4320, and (E) MEP105. The left panels of (A–E) plot the chromosomal positions of mutations as well as those of the cryptic exons and the stop codons generated by each variant; the middle panels show gel electrophoresis of reverse transcription PCR (RT-PCR) products of all tested minigenes. All the gel bands were longer than the control exons and predicted exons as RT-PCR primers were designed to include partial regions (92 bp) of the first and the third exons (the exons before and after the replaceable exon as shown in Supplementary Figure S2) in the minigene vector. The diagrams in the right panel, which are not to scale, are provided as a schematic of the variant-induced changes in transcript configuration. WT, splicing results of wild-type control; Var, splicing results of identified variants.