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Nick Beauchamp, Miranda Durkie, Somai Man, Richard Kirk

Case 5 : Determination of TG repeat number in cases with the 5T allele of the CFTR intron 8 polyT repeat. Nick Beauchamp, Miranda Durkie, Somai Man, Richard Kirk. Sheffield Molecular Genetics Service. Background. 5T allele of the polyT repeat in intron 8 of the CFTR gene:

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Nick Beauchamp, Miranda Durkie, Somai Man, Richard Kirk

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  1. Case 5 : Determination ofTG repeat number in cases with the5T allele of theCFTRintron 8 polyT repeat Nick Beauchamp, Miranda Durkie, Somai Man, Richard Kirk Sheffield Molecular Genetics Service

  2. Background • 5T allele of the polyT repeat in intron 8 of the CFTR gene: • Reduced efficiency of intron 8 acceptor SS • Modifies severity of mutations in cis • Increased frequency in CBAVD cases

  3. Background 2 • TG repeat in intron 8 of CFTR gene • 9 to 13 repeat • Immediately upstream of polyT • Experimentally reduces splicing efficiency with increasing size when associated with 5T allele of polyT • Increased frequency of 12TG and 13TG repeats in affected individuals • Groman et al Am J Hum Genet 2004:74 176-9.

  4. Elucigene™ CF-HT v.3 • Fluorescent ARMS kit for 28 point mutations in the CFTR gene • Identifies heterozygosity and homozygosity • Genotyping of the polyT in intron 8 • Simultaneous determination of TG repeat • Identifies number of TG repeats linked in cis with each polyT allele.

  5. Example Results 7T;10TG : 7T;11TG 7T;10TG : 9T;10TG 5T;11TG : 9T;10TG 5T;12TG : 7T;11TG

  6. New Kit now available:Elucigene™ CF-EU1 • Continues ability to determine polyT and TG repeat status

  7. Case 5 Discussion Points • Are there any haplotypes that are difficult to call? • When is the polyT type recorded / reported? • When is the polyTG type recorded / reported?

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