title: Increased expression of 5q31 fragile site in a Bloom syndrome family.
abstract: In this work, we report spontaneous chromosomal breakpoints and fragile site expression induced by 5-fluorodeoxyuridine (FdUrd) and FdUrd plus caffeine in a family with Bloom's syndrome (BS) and 2 healthy donors. Standard and G-banded metaphases from each individual and each treatment were analyzed. Among the 59 common fragile sites (c-fra) identified in this work, only the frequency of 5q31 was significantly increased in the BS family with respect to healthy donors (P less than 0.005). A remarkable coincidence between the breakpoints involved in spontaneous chromosome aberrations and induced c-fra was found in BS homozygote patients. The importance of the interaction between fragile sites and chromosome rearrangements in cancer is discussed.
authors.affiliation: Sección Citogenética, Academia Nacional de Medicina, Buenos Aires, Argentina.
authors.forename: A F
authors.initials: AF
authors.lastname: Fundia
authors.forename: N B
authors.initials: NB
authors.lastname: Gorla
authors.forename: M M
authors.initials: MM
authors.lastname: Bonduel
authors.forename: O
authors.initials: O
authors.lastname: Azpilicueta
authors.forename: H
authors.initials: H
authors.lastname: Lejarraga
authors.forename: F S
authors.initials: FS
authors.lastname: Muriel
authors.forename: I B
authors.initials: IB
authors.lastname: Larripa
mesh_terms: D001816:Bloom Syndrome / Q000235:genetics*; D002110:Caffeine; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002874:Chromosome Mapping / Q000379:methods; D002895:Chromosomes, Human, Pair 5; D005467:Floxuridine; D015870:Gene Expression / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D016297:Mutagenesis, Site-Directed
chemical_list: D005467:Floxuridine; D002110:Caffeine