Naslov
Statistical evaluation of experimental data based on the high-resolution melting approach - application to BRCA1 polymorphisms
(Statistical evaluation of experimental data based on the high-resolution melting approach - application to BRCA1 polymorphisms)

Autori
Ozretić, Petar ; Konjevoda, Paško ; Levačić Cvok, Mirela ; Musani, Vesna ; Čretnik, Maja ; Levanat, Sonja

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

Izvornik
Sažeci Četvrtog hrvatskog kongresa iz humane genetike s međunarodnim sudjelovanjem / Paediatria Croatica, Supplement 51 / Barišić, Ingeborg - Zagreb : Klinika za dječje bolesti, 2007, 164-164

Skup
Četvrti hrvatski kongres iz humane genetike s međunarodnim sudjelovanjem

Mjesto i datum
Malinska, Hrvatska, 18.10.2007. - 20.10.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
statistical analysis ; BRCA1 ; polymophism ; high-resolution melting

Sažetak
Mutations in BRCA1 (BReast CAncer Type 1 Susceptibility Gene) are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. We analyzed distribution of polymorphisms of BRCA1 gene among normal healthy population of Croatian women. For detecting polymorphisms we used a method based on high-resolution melting approach. Polymorphisms are distinguished from the wild- type genotype by changes in melting curve shape or position. Although every variant is confirmed by direct DNA sequencing, selecting PCR products for sequencing depends on visual ability of examiner to distinguish different melting patterns. This could be unreliable because sometimes melting profiles can be indiscernible. To verify our clustering (determination of how many different types of polymorphism do we have in each exon) and classification (determination of what type of polymorphism does certain DNA sample have) based on visual distinguishing melting patterns and direct DNA sequencing we used a few free open source data mining software (Weka, Tanagra...) and different statistical algorithms. Some of our results with application possibilities will be presented.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA