engleski

Evidence for 621+1 G T mutation in Croatian Population

Since today more than 960 mutationas and 200 polymorphisms in cystic fibrosis transmembrane conductance regulator gene (CFTR) have been reported. In the population of cystic fibrosis patients from Croatia, delF508 is the most common mutation (70%) followed by G542X (5.4%), N1303K (3.6%), R117H (1.8%), 1717-1G>A (1.8%) and R1162X (1.8%). In our regular diagnostic procedure we have recently found for the first time the case of the 621+1G>T splice mutation, placed in the intron 4. Its incidence is 0.5% for South European countries. Our usual laboratory procedure for detection of 15, most common CF mutations in Europe, includes PCR reaction followed by either heteroduplex or restriction fragment length polymorphism (RFLP) analysis. In the case of 621+1G>T mutation (RFLP, Msel restriction enzyme) mutaded allele appeared as three bands sizes of 234, 142, and 54 bp. Considering that of 15 mutations for which we usually test the samples, only 6 have beeng detected so far, the appearance of in Croatian population novel 621+1G<T mutation, confirm our strategy and the necessity for testing a larger number of mutations.

cystic fibrosis; mutations; Croatia

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