THE RELATIVELY HIGHER FREQUENCY OF MUTATIONS G551D AND CFTRDEL21KB IN CYSTIC FIBROSIS PATIENTS FROM THE CZECH REPUBLIC OBJECTIVELY PROVES THE CELTIC AND SLAVIC DESCENT OF THE CZECH POPULATION.

Doc. Dr. Milan Macek, CSc., Dr. Milan Macek ml., Dr. Alice Krebsová, Doc. Dr. V. Vávrová, DrSc. Cystic Fibrosis Center, Institute of Biology and Medical Genetics & 2nd Pediatric Clinic of the 2nd School of Medicine, Univ. Hospital Motol / Charles University, V Uvalu 84, Prague 5, CZ 150 06 (Milan.Macek.Jr@lfmotol.cuni.cz)

Cystic fibrosis (CF) is the most common, fatal, inherited disorder in our population with an incidence of approximately 1 in 3 000 newborns. This disease is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene (Kerem et al. 1990). Until 1999 we have collected a representative group of 248 CF patients from the entire Czech Republic (Fig. 1). From the total of 30 so far identified mutations (comprising over 96% of all CF chromosomes) only 8 mutations: ∆F508 (71%), CFTRdel21kb (4.6%), G551D (3.9%), N1303K (2.7%), G542X (2.1%), 1898+1 G-A (2.0%), 2143delT (1.0%) a R347P (0.7%) are present on more than 0.5% of all affected chromosomes (Macek Jr et al. 1991, Macek Jr et al. 1997).