Increased expression of 5q31 fragile site in a Bloom syndrome family.
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.
Fundia
A F
AF
Sección Citogenética, Academia Nacional de Medicina, Buenos Aires, Argentina.
Gorla
N B
NB
Bonduel
M M
MM
Azpilicueta
O
O
Lejarraga
H
H
Muriel
F S
FS
Larripa
I B
IB
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
D005467:Floxuridine; D002110:Caffeine