A CA repeat in the first intron of the CFTR gene.
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.
Moulin
D S
DS
Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, UK.
Smith
A N
AN
Harris
A
A
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA