We want focus our attention to an extended genetic characterization of CFTR to search mutations and/or variant tracts with a well-established pathogenetic role (first kind of molecular lesion), and to investigate the presence of intronic and silent-exonic genomic variants whose functional relevance is to be assessed (second kind of molecular lesion). Concerning the third kind of molecular lesion, we want to determine if the development of nasal polyposis can be related to the expression of the SPINK5, and/or to structural or functional mutations in these genes. The fourth aim of this project wants to improve our knowledge of somatic DNA alterations (fourth kind of molecular lesion) in the nasal polyposis evolution through CGH array.
