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1. Cystic fibrosis is an autosomal recessive genetic disorder. Cystic fibrosis (CF) is an autosomal recessive disease that affects many body systems.It is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Located on human chromosome 7, the CFTR gene is made up of 250,000 DNA nucleotides.. Cystic fibrosis is an autosomal recessive genetic disorder. Cystic fibrosis (CF) is an autosomal recessive disease that affects many body systems.
CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, Î´F508, is a deletion (Î´ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.ifferent people may have different degrees of symptoms. CF is an autosomal recessive disorder. It is caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). Those with a single working copy are carriers and otherwise mostly normal.