Naslov
Two new mutations (1811+1G C and Y569C) identified in the CFTR gene in patients of Macedonian and Croatian origin

Autori
Petreska, L. ; Plašeska, D. ; Kočeva, S. ; Stavljenić Rukavina, Ana ; Efremov, GD

Izvornik
Acta medica Croatica (1330-0164) 50 (1996); 125-7

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

Ključne riječi
mutations; CFTR gene

Sažetak
Two novel CFTR gene mutations were identified in one patient of the Macedonian and Croatian origin, respectively. The two mutations were detected by the method of denaturing gradient gel electrophoresis (a splicing mutation 1811 + 1G-->C) in intron 11, and by single strand conformation polymorphism analysis (a missence mutation Y569C) in exon 12. The mutations were characterized by direct sequencing of amplified DNA, according to Sanger. These two novel mutations were detected as associated with the delta F508 mutation.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA