Developing a diagnostic test to identify the selected mutation within the CFTR gene that determines the onset of cystic fibrosis
Curr Issues Pharm Med Sci., Vol. 31, No. 4, 200-203
Angelika Szymczak1, Piotr Ksiazek1, Sylwia Mojsym-Korybska1,
Wojciech Skorupa2, Albertyna Zbikowska-Machul3
1 Department of Public Health Medical University of Lublin, Chodzki 1, 20-093 Lublin, Poland
2 Clinic of Tuberculosis and Lung Diseases in Warsaw, Plocka 26, 01-138 Warszawa, Poland
3 Independent Public Health Care Center in Puławy, Bema 1, 24-100 Pulawy, Poland
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.
CF – cystic fibrosis, 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.