Naslov
The incidence of cystic fibrosis (CF) mutations among patients from Croatia

Autori
Tanacković, Goranka ; Barišić, Ingeborg ; Gjergja-Matejić, Romana ; Hećimović, Silva ; Pavelić, Jasminka

Izvornik
Clinical Genetics (0009-9163) 58 (2000), 4; 333-335

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

Ključne riječi
cystic fibrosis; mutations; Croatia

Sažetak
Because of the variable distribution of mutations in CFTR in the world, there is a need to characterise the spectrum of mutations in different countries, which enables the establishment of appropriate population genetic screening and diagnostic programmes. The only mutation studied so far among patients from Croatia is delta F508. Its low frequency forced us to expand our research to include 15 more mutations to gain insight into the frequency of occurrence of mutations that lead to the development of cystic fibrosis (CF). We have studied blood samples of 30 CF patients from unrelated Croatian families. We screened the samples for the 16 most common CFTR mutations: deltaF508, deltaI507, (heteroduplex analysis G542X, G551D, W1282X, N1303K, 3849 + 10kbC -> T, R553X, 621 + 1G -> T, R1162X, 1717-IG -> A, 2789 + 5G -> A, 3849 + 4A -> G, 1898 + IG -> A, R117H (restriction fragment length polymorphism) and 3905insT (single-strand conformational polymorphism analysis. The presence of six different mutations was observed on 60 CIF chromosomes: deltaF508, G542X, 1717-IG -> A, R117H, N1303K and R1162X. Also one rare mutation, G85E, in exon 3 was detected in 2 members of the same family.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA