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Image Search Results
Journal: European Journal of Human Genetics
Article Title: Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
doi: 10.1038/s41431-020-0641-9
Figure Lengend Snippet: a Multiple-sequence alignment showing the highly conserved Pro140 amino acid in the protein sequence encoded by the missense mutation c.446C>T; p.(Pro149Leu). b Bioinformatics analyses predicting a drastic decrease in the efficiency of the canonical donor splice site predicted to lead to exon 22 skipping. c Schematic representation of RT-PCR (primer sequence used for RT-PCR: EX21F1:5′CCACATGAAGGTCTCCGATG3′–EX23R1:5′GAGTTGTTTGTGCCTCTGTG3′) and nested PCR: Ex21-23F2:5′GCTGCCATTGACTCCAATTT3′–Ex24R2:5′CCTCGAGGTAGTTGGTGAGC3′) to evidence exon 22 skipping. d Sanger sequencing chromatograms of the amplified fragment confirming exon 22 skipping. e 1% gel electrophoresis initial RT-PCR products (left panel) and nested PCR products showing the amplification of the predicted fragment of about 184 bp only in the patient (blood: middle panel and fibroblast: right panel) bearing the variant and not in the control individual.
Article Snippet: To evaluate the potential pathogenicity impact of the C>T of the splice site variation on the efficiency of splicing, in silico analysis was performed using
Techniques: Sequencing, Mutagenesis, Reverse Transcription Polymerase Chain Reaction, Nested PCR, Amplification, Nucleic Acid Electrophoresis, Variant Assay