Naslov
Change of the NF2 gene in neurinomas

Autori
Nikuševa Martić, Tamara ; Pećina Šlaus, Nives ; Zeljko, Martina ; Tomas, Davor

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

Izvornik
Abstracts of The seventh ISABS Conference in forensic, anthropologic and medical genetics and Mayo Clinic lectures in Translational medicine / - Zagreb, 2011, 260-260

Skup
ISABS Conference in forensic, anthropologic and medical genetics and Mayo Clinic lectures in Translational medicine ( 7 ; 2011)

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NF2 gene; Merlin; loss of heterozigosity; neurinoma; microsatellite markers

Sažetak
The purpose of this study was the analysis of changes in the NF2 gene in human neurinomas. Losses of heterozigosity, gross deletions in the NF2 tumour suppressor gene were analyzed using two microsatellite markers: D22S444, whose PCR product is long between 123 and 131 base pairs, and D22S929, who is long 130 base pairs. The main cause for proliferation and transformation of Schwann cells into neurinomas is credited to the inactivation of the Neurofibromin 2 (NF2) gene and his protein product Merlin (Schwannomin). Merlin consists of 595 amino acids and is related to ERM (Ezrin, Radixin, Moesin) protein family. Polymerase chain reaction is used for amplification of DNA fragments isolated from neurinomas and associated blood samples (control samples). Efficiency of the amplification was verified with horizontal gel electrophoresis in agarose gel (2%) with ethidium bromide used for visualisation. The presence of gross deletions was detected using microsatellite markers with Spreadex gels (Elchrom Scientific, Switzerland).

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA