The polymorphic thymidine tract at the junction of intron 8 and exon 9 of the CFTR gene influences transcription.  It is well known that the number of thymidine residues (5T,7T or 9T) affects 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 also reported that the number of TG repeats upstream of the polythymidine tract can aslo affect splicing of exon 9.  If present on the same allele as the 5T variant the longer the number TG repeats the higher the proportion of CFTR transcripts will lack exon 9.  The ability to identify the number of TG repeats in addition to poly T status can provide further valuable information to assist clinical magement of the patient.  Both poly T status and the number of TG repeats can be determined using Elucigene CF-EU2.

Key Benefits of using Elucigene CF-EU2

1. Developed specifically for testing European populations
2. The only commercially available product that quantifies intron 8 TG repeat variance
3. Poly T analysis can be switched on or off as required
4. Detects wildtype and mutant alleles (i.e. full genotyping)
5. Validated for use on Applied Biosystems’3100/3130/3500  Genetic Analyzers
6. Results can be analysed using GeneMapper® or GeneMarker® software
7. Customised GeneMarker® application for simple patient analysis and reporting