Biopolymers and cell. 2001; 17 (4): 319 - 324

Mutation analysis of CFTR gene by DGGE method In CF patients from West Ukraine

H. V. Makukh, S. Kocheva, D. V. Zastavna, Y. O. Kornijenko, O. Z. Hnatejko

The results of DNA analysis of 60 non-delF508 chromosomes from West Ukraine patients with high risk of CF are shown. The spectrum of CF mutations was determined in J5 CFTR gene exons using DGGE method. The frequencies of CF mutations are found to be: G542X (exon 11) —3,7%; W1282X (exon 20) — 3,4%; N1303K (exon 21) — 3,4%. Besides we found some polymorphic gene variants, which can be used as markers for prenatal CF diagnostics.