Naslov
ARMS Multiplex test for rapid detection of CFTR gene mutations

Autori
Sertić, Jadranka ; Barišić, Ingeborg ; Zergollern, Ljiljana ; Jones, S. ; Stavljenić-Rukavina, Ana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
ATB '95, September 15th 1995, Milan, Book of Abstracts / - Milano, 1995

Skup
ATB '95

Mjesto i datum
Milano, Italija, 15.09.1995

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
ARMS Multiplex test; CFTR gene; cystic fibrosis

Sažetak
Cystic fibrosis (CF), multisystemic disorder is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In our previous study we have reported that Δ F508, the major mutation causing CF, occurs on 53% of CF chromosomes in the Croatian population. In the present study, the screening for the additional mutations was performed for G542X, G551D and R553X. We analysed 50 children with CF using KODAK CF (4)-PCR Kit. In this sample, rapid and highly reliable test ARMS technology was used to detect the above mentioned as well as Δ F508 mutations. Results were available in less than six hours including DNA isolation, too. Δ F508 results were confirmed using alternative PCR/PAGE method. In this study three genotypes were identified in the Croatian population ; 23% were Δ F508 normal homozygote, 48% were heterozygote, 29% mutant homozygote, 12% G551D, G542X heterozygote and 4% were 551 mutant homozygote, respectively.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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