Developing a diagnostic test to identify the selected mutation within the CFTR gene that determines the onset of cystic fibrosis

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.

Keywords

• 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