engleski

Molecular ecidence of chromosome 9q22.3 deletions in Gorlin syndrome region A two-hit mechanism for developmental defects

We investigated the molecular basis for developmental defects in Gorlin syndrome, an autosomal dominant disorder predisposing for neoplasia(basal cell carcinomas, medulloblastomas and ovarian fibromas) as well as wide variety of developmental defects including pits of palms and soles, bifid ribs, spina bifida occulta and keratocysts of the jaws.LOH at 9q22.3 in hereditary tumors as well in sporadic cases implies that the Gorlin syndrome gene is homozygously inactivated and normaly functions as a tumor suppressor.

tumor suppressor; Gorlin syndrome; two-hit theory; PTCH gene

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