Increased expression of 5q31 fragilee site in a Bloom syndrome famüy

FUNDIA A; GORLA N; BONDUEL M; O. AZPILICUETA,; HORACIO LEJARRAGA; F SACKMAN MURIEL; LARRIAP IRENE

HUMAN GENETICS.

SPRINGER

Lugar: Berlin; Año: 1992

0340-6717

Summary. In this work, we report spontaneous chromo- somal breakpoints and fragüe site expression induced by 5-fluorodeoxyuridine (FdUrd) and FdUrd plus caffeine in a famüy 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 fragüe sites (c-fra) identified in this work, only the frequency of 5q31 was significantly increased in the BS famüy with respect to healthy donors (P < 0.005). A remarkable coincidence between the breakpoints in- volved in spontaneous chromosome aberrations and in- duced c-fra was found in BS homozygote patients. The importance of the interaction between fragüe sites and chromosome rearrangements in cáncer is discussed.