R117H and IVS8-5T Cystic Fibrosis Mutation Detection by Restriction Enzyme Digestion

@article{Shrimpton2000R117HAI,
  title={R117H and IVS8-5T Cystic Fibrosis Mutation Detection by Restriction Enzyme Digestion},
  author={Antony E. Shrimpton},
  journal={Molecular Diagnosis},
  year={2000},
  volume={5},
  pages={235-238}
}
The number of thymines in a thymine repeat in intron 8 (IVS8) next to the exon 9 of the cystic fibrosis gene (CFTR) affects the efficiency of this site to act as a splice acceptor site and the subsequent inclusion or skipping of exon 9 into the CFTR protein. Another source of genetic variation, responsible for mild cystic fibrosis (CF) and/or congenital bilateral absence of the vas deferens, is the mutation R117H, located in exon 4 of CFTR. Both these genetic variants can be detected using… CONTINUE READING