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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.

Original publication




Journal article


Hum Hered

Publication Date





295 - 297


Alleles, Cystic Fibrosis Transmembrane Conductance Regulator, DNA, Dinucleotide Repeats, Family Health, Gene Frequency, Genes, Heterozygote, Humans, Introns, Polymorphism, Genetic