engleski

Two cases of alleles with complex genotypes among cystic fibrosis patients from Croatia

Cystic fibrosis (CF), a Mendelian recessive disorder, appears when both alleles carry one mutation. However, the existence of so-called complex genotypes, consisting of mutation and polymorphism at the same allele, are also described. We report here on two different alleles with the same mutation but different a genetic polymorphism found in two unrelated patients from Croatia. One allele was characterized as G542X+F508C and the other as G542X+P1290P. Both alleles were found in patients whose second allele was the deltaF508 variety.

cystic fibrosis (CF); allele(s); mutation(s); complex genotype(s); polymorphism(s); Croatia

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