eng URI http://hdl.handle.net/10795/3634 υγεία φυσικές επιστήμες κυτταρολογία Background: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA cases. We report on the results from a cohort of 166 patients referred to the Department of Medical Genetics of Athens University for genetic investigation after the clinical suspicion of FA. Materials and Methods: For clastogen-induced chromosome damage, cultures were set up with the addition of mitomycin C (MMC) and diepoxybutane (DEB), respectively. Following a positive cytogenetic result, molecular analysis was performed to allow identification of causative mutations in the FANCA gene. Results: A total of 13/166 patients were diagnosed with FA and 8/13 belonged to the FA-A subtype. A novel point mutation was identified in exon 26 of FANCA gene. Conclusion: In our study 62% of FA patients were classified in the FA-A subtype and a point mutation in exon 26 was noted for the first time. GR 6 pp. LOMv1.0 creator LOMv1.0 Scientific Coordinator LOMv1.0 Project Executing Organisation 2013-06-28 Digital Library of the Operational Programme "Education and Lifelong Learning" abstract types Text Fanconi anemia FANCA gene Cytogenetic and molecular investigation Mutation Greek patients Genetic disorders Genes Chromosome damage Μεταλλάξεις Χρωμοσώματα Κύτταρα Γονίδια Γενετικές διαταραχές http://ar.iiarjournals.org/content/33/8/3369.full.pdf+html 1319610 application/pdf http://repository.edulll.gr/edulll/bitstream/10795/3634/2/3634_1.52_%ce%94%ce%97%ce%9c_28_6_13.pdf URI http://hdl.handle.net/10795/3634 LOMv1.0creator 2016-06-14T12:31:59Z LOMv1.0validator 2016-06-14T12:31:59Z LOMv1.0 gre no no Copyright EYD-EPEDBM (Operational Programme "Education and Lifelong Learning")