Naslov
Molecular diagnosis of cystic fibrosis

Autori
Sertić, Jadranka ; Stavljenić-Rukavina, Ana ; Zergellern, Ljiljana ; Barišić, Ingeborg

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

Izvornik
1. hrvatski kongres humane genetike s međunarodnim sudjelovanjem - final programme and abstract book / - Zagreb, 1994, 52-52

Skup
1. hrvatski kongres humane genetike

Mjesto i datum
Zagreb, Hrvatska, 22.09.1994. - 25.09.1994

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
cystic fibrosis; F508 mutation; DNA analysis

Sažetak
Cystic fibrosis (CF) is a serious genetic defect transmitted as an autosomal recessive disease. The main intragenic mutation is Δ F508 deletion, and the most common extragenic mutations involve KM-19 and XV-2c. Recently, three polymorphic dinucleotides of intron 8 (IV S 8/GT) and 17b (IV S 17b/TA and IV S 17b/CA), in combination with Δ F508 fully informative in 99% of CF patients, have been detected in Italy. In Croatia, 58 families with CF patients were analysed. Results of genotyping revealed Δ F508 to be present in 51.7% of CF patients. The analysis of extragenic KM-19 locus polymorphism pointed to association between cystic fibrosis and a part of the genome in 30% of patients. A new mutation of exon 12 (Y 5696) of the CFTR gene was also observed in one patient with Δ F508, which appears to be an advance in prenatal diagnosis.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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