Keywords
CFTR – cystic fibrosis transmembrane conductance regulator
EnaC – epithlial sodium channel
ROMK – renal outermedullary potassium channel
ORCC – outwardly rectifying chloride channel
CBAVD – congenital bilateral absence of the vas deferent
WHO – World Health Organization
ECFTN – European Cystic Fibrosis Society
PCR – polymerase chain reaction
Abstract
Cystic fibrosis is one of the most common genetic diseases among Caucasians due to its prevalence. Modern methods of molecular diagnostics and treatment of the disease allow to prolong the life of patients. In order to apply the appropriate treatment, the genetic basis of this disease should, however, first be known. The most common and the most severe mutation present in the CFTR gene (60-70% of cases) takes the form of an allele. This is responsible for the deletion of phenylalanine in position 508 (Δ508) of the CFTR protein. Determination of mutations in the CFTR gene using molecular techniques makes it possible to identify the causes of the disease in people who do not show the characteristic symptoms of cystic fibrosis.References
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