A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.
A genomic sequence close to the cystic fibrosis locus with the characteristics of an HTF island has been selectively cloned and characterized. Two markers flanking this sequence, which is conserved throughout mammalian evolution, show a very much greater disequilibrium than that found with any existing marker. A single mutational event accounts for most cases of cystic fibrosis. The sequence is expressed, and is a candidate for the cystic fibrosis gene.
D000818:Animals; D001483:Base Sequence; D001798:Blood Proteins / Q000235:genetics*; D040501:Calgranulin A; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D003550:Cystic Fibrosis / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells / Q000648:ultrastructure; D008745:Methylation; D051379:Mice; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D001798:Blood Proteins; D040501:Calgranulin A; D005819:Genetic Markers; C026422:cystic fibrosis serum factor