Diagnostics of cystic fibrosis and other CFTR-related diseases, stage I - analysis of the CFTR gene sequence - exons 4, 8, 11, 12, 14, 20, 23 and 24 (16 most common mutations in the Polish p

Diagnosis of cystic fibrosis and other CFTR-dependent diseases Stage I - sequence analysis of the CFTR gene - exons 4, 8, 11, 12, 14, 20, 23 and 24 (16 most common mutations in the Polish population

Clinical significance

Mutations in this gene are inherited in an autosomal recessive mannerób. More than 1,000 mutations in the CFTR gene have been identified in peopleób with cystic fibrosis. Most of these mutations alter single amino acids in the CFTR protein or delete a small amount of DNA from the CFTR gene. The most common mutation, called delta F508, is a deletion of a single amino acid at position 508 in the CFTR protein.

The resulting non-functional channel, has an abnormal structure and alters the stability of the channel, whichóra decays in a wkót time after it is formed, impeding the transport of chloride ions and the flow of water into and out of the cellsóre. The cellsólining the ducts of the lungs, pancreas and other organsóproduce mucus thatós extremely thick and sticky. The most common symptoms of this disorder include progressive damage to the respiratory system, frequent bacterial infections that cause inflammation and chronic digestive problems.

The accumulation of mucus and infections cause permanent damage to the lungs, including the formation of scar tissue (shortness of breath) and cysts in the lungs. Digestive problems also result from the accumulation of thick, sticky mucus in the pancreas, causing intestinal blockage and stool obstruction. In peopleób with cystic fibrosis, the mucus blocks pancreatic ducts, reducing insulin production and preventing digestive enzymes that aid digestion from getting through, which can lead to pancreatitis, which causes abdominal painóre, nausea, vomiting and fever.

Cystic fibrosis is a common genetic disorder thatóre found in 1 in 2,500 to 3,500 newbornsów. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americansóand 1 in 31,000 Americansóof Asian descent. The features of the disorder and its severity vary amongóindividuals. Individualsób adults with cystic fibrosis have health problems involving the respiratory, digestive and reproductive systems.

Most men with cystic fibrosis have congenital bilateral vas deferens obstruction (CBAVD), characterized by blockage of the vas deferens by thick mucus, so that they do not develop properly. Women with cystic fibrosis can have complications during pregnancy. Variations in the CFTR gene areóalso associated with sinusitis, whichóis a chronic inflammation of the tissues covering the sinuses thatópartially block the airways and interfere with breathing. Additional genetic and environmental factors may play a role in determining the risk of complex conditionsóre.