Naslov
Application of semi-quantitative fluorescent multiplex PCR for detection of large deletions in French and Croatian Gorlyn syndrome patients

Autori
Musani, Vesna ; Gorry, Philippe ; Basta-Juzbašić, Aleksandra ; Levanat, Sonja

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

Izvornik
International Journal of Molecular Medicine / Spandidos DA - Atena, 2007

Skup
12th World Congress on Advances in Oncology, 10th International Symposium on Molecular Medicine

Mjesto i datum
Hersonissos, Grčka, 11.10.2007. - 13.10.2007

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
multiplex-PCR; deletions; Gorlin syndrome

Sažetak
Gorlin syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities, cysts of the skin, jaws, and mesentery and cancer predisposition to basal cell carcinomas (BCC), medulloblastomas, meningiomas, fibromas of the ovaries and heart. The syndrome is caused by mutations in the human homolog of the Drosophila patched gene, PTCH. PTCH is a tumor supressor gene, located at 9q22.3, and encodes a 12-pass transmembrane glycoprotein that acts as an antagonist in the Hedgehog signaling pathway. Up to date several cases of large deletions in PTCH region have been found. The methods most often used are fluorescence in situ hybridization (FISH) and comparative genomic hybridization array (CGH). We developed a fast, easy and relatively cheap method of semi-quantitative fluorescent multiplex PCR using polymorphic markers surrounding PTCH gene for deletion detection. In the sample of 44 French and 5 Croatian Gorlin syndrome families we found 3 cases with deletions ranging from 4.12-7.04 megabases.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA