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Increased expression of 5q31 fragile site in a Bloom syndrome family

✍ Scribed by Ariela F. Fundia; Nora B. Gorla; Mariana M. Bonduel; Osvaldo Azpilicueta; Horacio Lejarraga; Federico Sackman Muriel; Irene B. Larripa

Book ID
104669194
Publisher
Springer
Year
1992
Tongue
English
Weight
676 KB
Volume
89
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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