Nalazite se na CroRIS probnoj okolini. Ovdje evidentirani podaci neće biti pohranjeni u Informacijskom sustavu znanosti RH. Ako je ovo greška, CroRIS produkcijskoj okolini moguće je pristupi putem poveznice www.croris.hr
izvor podataka: crosbi

Application of semi-quantitative fluorescent multiplex PCR for detection of large deletions in French and Croatian Gorlin syndrome patients (CROSBI ID 551148)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa

Musani, Vesna ; Gorry, Philippe ; Basta-Juzbašić, Aleksandra ; Levanat, Sonja Application of semi-quantitative fluorescent multiplex PCR for detection of large deletions in French and Croatian Gorlin syndrome patients // International journal of molecular medicine / Spandidos, D. A. (ur.). 2007. str. 42-42

Podaci o odgovornosti

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

engleski

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

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.

Gorlin syndrome ; deletions ; fluorescent multiplex PCR

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

42-42.

2007.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

International journal of molecular medicine

Spandidos, D. A.

Atena: Spandidos Publications

1107-3756

1791-244X

Podaci o skupu

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

predavanje

11.10.2007-13.10.2007

Hersonissos, Grčka

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost