Fig. 8: RT-PCR analysis of endogenous expression of KCNQ1 in the blood of the index patient’s parents. | npj Genomic Medicine

Fig. 8: RT-PCR analysis of endogenous expression of KCNQ1 in the blood of the index patient’s parents.

From: A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

Fig. 8

a Agarose gel electrophoresis of RT-PCR products of blood RNA isolated from the index patient’s mother (lane 1) and father (lane 2). Amplification of KCNQ1 cDNA was performed with a forward primer located in E13 and a reverse primer in E16. Negative controls were loaded in lane 3 (-RT) and 4 (nontemplate). The upper bands (254 bp) correspond to normal KCNQ1 mRNA and the lower one (207 bp) to the ΔE14 KCNQ1 aberrant mRNA. Below are shown the Sanger sequencing chromatograms of the 254 bp (b) and 207 bp (c) RT-PCR bands from the index patient’s father. The exon-exon junctions are marked with vertical dotted lines, and the number of each exon is indicated (E13-E16). The deduced amino acid sequence is shown below the nucleotide sequence, revealing the frameshift at the start of E15 that was created by the skipping of E14. Full-size RT-PCR image is shown in Supplementary Fig. 8.

Back to article page