Naslov
The F508 mutation and genotype-phenotype correlation in Croatian cystic fibrosis families

Autori
Zergollern, Ljiljana ; Stavljenić-Rukavina, Ana ; Barišić, Ingeborg ; Sertić, Jadranka

Izvornik
Periodicum Biologorum (0353-9164) 95 (1993); 359-361

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

Ključne riječi
Delta F808 mutation ; cystic fibrosis ; genotype-phenotype correlation

Sažetak
A sample of 102 chromosomes of Croatian cystic fibrosis patients was analyzed for the presence of the deltaF508 mutation within the gene coding for cystic fibrosis transmembrane conductance regulator (CFTR) protein. Genotyping performed by PCR technology showed an overall frequency of 53% of this major CF gene mutation, 69% of chromosomes of patiens with pancreatic insufficiency (PI) and 42% of patients with pancreatic sufficiency (CF-PS) being affected. Most of the patients homozygous for deltaF508 were PI (89%) in comparison with 33% and 17% in heterozygous and other/other genotype groups, respectively. There is no absolute association between the severity of the disease and the deltaF508 genotype, but homozygous individuals tend to have a more serious form of the disease. Identification of other mutations that may eventually prevail in this population is essential for the improvement of diagnosis, more accurate prognosis and prevention in families at risk.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA