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

Autori
Tanacković, Goranka ; Barišić, Ingeborg ; Knežević, Jelena ; Pavelić, Jasminka

Izvornik
Balkan Journal of Medical Genetics (1311-0160) 5 (2002), 1-2; 3-5

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

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

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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