What is a human gene involved in a monogenic disease that has been cloned?
One of the most notable is that which causes cystic fibrosis. There is one gene, called cystic fibrosis transmembrane conductance regulator (CFTR), which is pretty much a chloride channel located in the lungs and gastrointestinal tract important in keeping the lining of these tracts moist and not too viscous (i.e. thick). If we get a mutation in this one gene so that this CFTR channel does not function properly, we get really thick mucus in our lungs which causes recurrent respiratory infections and we get really thick mucus in our gastrointestinal tract which prevents the absorption of our food and makes us malnutritious (i.e. can’t gain normal weight and grow properly). The reason CFTR is so notable is because it is known to be the sole cause of this disease (i.e. it is monogenic), cystic fibrosis is one of the most common life-shortening diseases in our community, and it is at the forefront of what might be one of the most revolutionary medical procedures that could be used in the d
