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Pregled bibliografske jedinice broj: 300382

Časopis

Autori: Knežević, Jelena; Tanacković, Goranka; Matijević, Tanja; Barišić, Ingeborg; Pavelić, Jasminka
Naslov: Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population
Izvornik: Genetic testing (1090-6576) 11 (2007), 2; 133-138
Vrsta rada: članak
Ključne riječi: cystic fibrosis; mutations; Croatian population
Sažetak:
The aim of this study was to reveal the CFTR gene mutation status in the Croatian population as well as to establish the haplotypes associated with cystic fibrosis (CF) and those associated with specific gene mutations. A total of 48 unrelated CF patients from Croatia were examined. Among 96 tested alleles, we found nine different mutations: Δ F508, 58.33% ; G542X, 3.12% ; N1303K, 2.08% ; R1162X ; 621 + 1G → T ; G85E ; Y569C ; E585X ; and S466X, 1.04%. Analysis of three polymorphic loci revealed 15 different haplotypes. Two of them (21-23-13 and 21-17-13) occurred with a higher frequency (40% and 24%). Both of these haplotypes also carried a CFTR gene mutation (Δ F508 or G542X) on 27 out of 32 chromosomes. Among 12 (of all together 29) CF alleles on which no mutations were found, we detected 10 different haplotypes. Because there are still no published data on the distribution of polymorphic loci in Croatia, nor haplotypes associated with mutations in the CFTR gene, our results greatly contribute to knowledge regarding the genetic background of CF in this region.
Projekt / tema: 065-0982464-2532, 098-0982464-2394, 072-1083107-0365
Izvorni jezik: ENG
Rad je citiran u
bazama podataka:
Web of Science: Science Citation
Current Contents Citation Index
Scopus
MEDLINE
Web of Science: Science Citation Index Expanded
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti,Dentalna medicina
URL cjelovitog teksta:
Google Scholar: Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population
Upisao u CROSBI: Jasminka Pavelić (jpavelic@irb.hr), 21. Lip. 2007. u 14:50 sati



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