Elucigene CF Poly-T
The polymorphic polythymidine tract at the junction of intron 8 and exon 9 influences transcription. The number of thymidine residues (5T, 7T or 9T) affects the splicing efficiency of exon 9. If the 5T allele is present, a proportion of exon 9 transcripts will be absent resulting in non-functional protein and variable CF symptoms. It is reported that the number of TG repeats upstream of the polythymidine tract can also influence splicing of exon 9. If present on the same allele as the 5T variant (cis) the larger the number of TG repeats, the higher the proportion of CFTR transcripts will lack exon 9. Elucigene CF-EU2v1 is unique amongst commercially available assays in its ability to accurately identify the number of TG repeats in addition to polyT status.
Instructions for use
KIT, Eluci, CF Poly-T, 50 T, IVD-CE
1 PCR tube per sample, 3 mutations detected, Gel based platform