Naslov
Tanacković, Goranka; Barišić, Ingeborg; Gjergja-Matejić, Romana; Hećimović, Silva; Pavelić, Jasminka
(The incidence of cystic fibrosis (CF) mutations among patients from Croatia)

Autori
Tanacković G, Barišić I, Gjergja-Matejić R, Hećimović S, Pavelić J.

Izvornik
Clinical Genetics (0009-9163) 58 (2000), 4; 333-5.

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

Ključne riječi
cystic fibrosis; gene mutations

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 strategies. We have studied blood samples of 30 CF patients of unrelated Croatian families. The presence of six different mutations was observed on 60 CF chromosomes:deltaF508, G542, 1717-1G--A, R117h, N1303K and R1162X. One rare mutation G85E was detected in 2 members of the same family. These 7 mutations account for 83.3% of CF alleles in Croatian CF patients.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA