Fanconi anaemia, chromosome instability, DNA replication and fragile sites

The purpose was to study, within two CFSs, FRA2G and FRA2H, the relationship between DNA replication timing and fragility in FA lymphoblasts mutated in the FANCA gene (FA-A) and in the same cells transfected with normal FANCA gene (FANCA). The results were: Respect to control cells, in FA-A and FANCA cells, the fragile sequences show a DNA replication stalling between the second and third stage of S phase. Moreover, while FA-A cells reach the last phase with only a 55% of duplicated loci, FANCA cells show a more regular trend reaching, as the control cells, the last phase of S with 69% of replicated alleles.