Naslov
Cystic fibroisis mutation screening program for Croatian CF patients

Autori
Tanacković, Goranka ; Hećimović, Silva ; Barišić, Ingeborg ; Pavelić, Krešimir

Izvornik
Paediatria Croatica (1330-1403) 42 (1998), Suppl 3;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
cystic fibrosis; screening; Croatia; molecular analysis; mutation

Sažetak
Cystic fibrosis (CF) is the most common recessive disorder caused by mutations in the CF transmembrane conductance regulator gene (CFTR). Over 700 molecular defects have been reported to cause the disease. The distribution of these mutations mainly depends on ethnic and geographic origins of CF patients. Since there is no much data concerning the occurrence of CFTR mutations among CF patients of Croatian origin, the aim of our study was to settle CF screening program that would enable a complete CF mutation detection among our patients. This included, firstly, screening for the 16 most common CFTR mutations and, secondly, searching for other mutations as well as identifying some new mutations that might be characteristic of our population. In our screening program the following mutations were included: Δ F508, Δ I507, G542X, G551D, W1282X, 3905insT, N1303K, 3849+10kbC→ T, R553X, 621-1G→ T, 17171-1G→ A, 2789+5G→ A, 2789+5G→ A, 3849+4A→ G, R1162X, 1898+1G→ A and R117H. The results of molecular analysis of 62 CF chromosomes revealed the frequency of detected mutations: ∆ F508 (60%), R117H (6.5%), G542X (3.2%), N1303K (3.2%), 1717-1G→ A(3.2%), R1162X (1.6%). Since 22.3% of CF alleles in this study were yet unidentified, further analysis is planned, including screening for new mutations by DGGE analysis and DNA sequencing.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA