title: R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion.
abstract: 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 restriction site-generating PCR amplification. The severity of the CF phenotype is partly dependent on the IVS8 background on which R117H occurs; thus, it is important to be able to test clinically for both these variants. A method using restriction digestion of PCR product is presented.
authors.affiliation: Clinical Pathology, State University of New York Upstate Medical University, Syracuse, NY, USA. shrimpta@upstae.edu
authors.forename: A E
authors.initials: AE
authors.lastname: Shrimpton
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004262:DNA Restriction Enzymes / Q000737:chemistry*; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004262:DNA Restriction Enzymes