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Pregled bibliografske jedinice broj: 300382

Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population


Knežević, Jelena; Tanacković, Goranka; Matijević, Tanja; Barišić, Ingeborg; Pavelić, Jasminka
Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population // Genetic testing, 11 (2007), 2; 133-138 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 300382 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population

Autori
Knežević, Jelena ; Tanacković, Goranka ; Matijević, Tanja ; Barišić, Ingeborg ; Pavelić, Jasminka

Izvornik
Genetic testing (1090-6576) 11 (2007), 2; 133-138

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

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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Dentalna medicina



POVEZANOST RADA


Projekti:
065-0982464-2532 - Molekularni mehanizmi nastanka prekanceroznih i kanceroznih lezija usne šupljine (Mravak-Stipetić, Marinka, MZOS ) ( POIROT)
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Barišić, Ingeborg, MZOS ) ( POIROT)
098-0982464-2394 - Gensko liječenje tumora djelovanjem na molekule imunološkog sustava (Pavelić, Jasminka, MZOS ) ( POIROT)

Ustanove:
Institut "Ruđer Bošković", Zagreb


Citiraj ovu publikaciju:

Knežević, Jelena; Tanacković, Goranka; Matijević, Tanja; Barišić, Ingeborg; Pavelić, Jasminka
Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population // Genetic testing, 11 (2007), 2; 133-138 (međunarodna recenzija, članak, znanstveni)
Knežević, J., Tanacković, G., Matijević, T., Barišić, I. & Pavelić, J. (2007) Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population. Genetic testing, 11 (2), 133-138.
@article{article, author = {Kne\v{z}evi\'{c}, Jelena and Tanackovi\'{c}, Goranka and Matijevi\'{c}, Tanja and Bari\v{s}i\'{c}, Ingeborg and Paveli\'{c}, Jasminka}, year = {2007}, pages = {133-138}, keywords = {cystic fibrosis, mutations, Croatian population}, journal = {Genetic testing}, volume = {11}, number = {2}, issn = {1090-6576}, title = {Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population}, keyword = {cystic fibrosis, mutations, Croatian population} }
@article{article, author = {Kne\v{z}evi\'{c}, Jelena and Tanackovi\'{c}, Goranka and Matijevi\'{c}, Tanja and Bari\v{s}i\'{c}, Ingeborg and Paveli\'{c}, Jasminka}, year = {2007}, pages = {133-138}, keywords = {cystic fibrosis, mutations, Croatian population}, journal = {Genetic testing}, volume = {11}, number = {2}, issn = {1090-6576}, title = {Analysis of cystic fibrosis gene mutations and associated hyplotypes in the Croatian population}, keyword = {cystic fibrosis, mutations, Croatian population} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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