engleski

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

multiplex-PCR; deletions; Gorlin syndrome

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