Anemia de Fanconi: cap a un nou diagnòstic citogenètic molecular i relació entre longitud telomèrica, fragilitat cromosòmica i pancitopenia progressiva.

Fanconi anaemia is an autosomal recessive disease characterized by increased spontaneous and induced chromosome instability, progressive pancytopenia and cancer susceptibility. The aim of this project is to develop a molecular cytogenetic diagnosis of disease and to test whether there is a relationship between accelerated telomere shortening and the observed chromosome fragility and pancytopenia. The telomeric lenght from peripheral blood genomic DNA will be measured in at least 50 patients, unaffected carriers and normal individuals by Southern blotting. In addition, a new assay specifically detecting 1q12 breakage by multicolour fluorescence \i in situ\b \b0 \i0 hybridization with tandem probes will be applied in order to test the suitability of this method in the diagnosis of FA. The generic end-points analyzed will be finally correlated with the hematological data obtained from the patients.