Figure 4. TMEM126B exons 2 and 3 splicing patterns in patient-derived lymphocytes.
A-B. Agarose gel electrophoresis (A) and Sanger sequencing (B) for RT-PCR products from patient and healthy control’s lymphocytes, which the primers was designed at exon 1 and exon 3 respectively.
C. Schematic representation of the splicing process. The c.82-2A>G mutation resulted in premature termination at position of 58 in exon 3. V9 referred to the transcript variant 9 ofTMEM126B (NM_001350396.2).
D-E. Agarose gel electrophoresis (D) and Sanger sequencing (E) for RT-PCR products from patient and healthy control’s lymphocytes, which the primers were designed at the junction of exon 1 and 2 and exon 4 respectively to avoid amplifying additional transcripts. The mutation was highlight with grey.
F. Schematic representation of the splicing process. The c.290dupT caused a premature termination at position 100 and 101 of the two transcripts, respectively.