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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.
Certain mutations of the CFTR gene result in damage to the CFTR protein, which is then unable to carry out its function-transmembrane transport regulation. Cystic fibrosis disease (CF) is a result of the loss of this essential function. To begin to understand how a mutation in the CFTR gene can disrupt the proper functioning of the CFTR protein and lead to cystic fibrosis, let us examine the structure of CFTR.