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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.
Some affected males have a mild mutation in one copy of the CFTR gene in each cell and a more severe, cystic fibrosis-causing mutation in the other copy of the gene. Mutations in the CFTR gene disrupt the function of the chloride channel, preventing the usual flow of chloride ions and water into and out of cells.