title: A CA repeat in the first intron of the CFTR gene.
abstract: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5' to intron 6a and so will be a useful additional diagnostic marker.
authors.affiliation: Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, UK.
authors.forename: D S
authors.initials: DS
authors.lastname: Moulin
authors.forename: A N
authors.initials: AN
authors.lastname: Smith
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D000483:Alleles; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics; D018900:Dinucleotide Repeats; D005192:Family Health; D005787:Gene Frequency; D005796:Genes; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA