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

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, howeve...

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Bibliographic Details
Published in:	Current issues in pharmacy and medical sciences Vol. 31; no. 4; pp. 200 - 203
Main Authors:	Szymczak, Angelika, Ksiazek, Piotr, Mojsym-Korybska, Sylwia, Skorupa, Wojciech, Zbikowska-Machul, Albertyna
Format:	Journal Article
Language:	English
Published:	Sciendo 01-12-2018
Subjects:	CBAVD – congenital bilateral absence of the vas deferent CF – cystic fibrosis CFTR – cystic fibrosis transmembrane conductance regulator ECFTN – European Cystic Fibrosis Society EnaC – epithlial sodium channel ORCC – outwardly rectifying chloride channel PCR – polymerase chain reaction ROMK – renal outermedullary potassium channel WHO – World Health Organization
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Summary:	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.
ISSN:	2084-980X 2300-6676
DOI:	10.1515/cipms-2018-0037