Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderma pigmentosum

The frequency of BrdU-induced sister chromatid exchanges (SCE) in cultured lymphocytes from patients with ataxia telangiectasia, Werner syndrome, and xeroderma pigmentosum was normal. The rate was increased in xeroderma pigmentosum following exposure to ultraviolet light and spontaneously raised in the Bloom syndrome. Quadriradial exchanges between homologous chromosomes in Bloom syndrome not only involve sister chromatids but also homologous (non-sister) chromatids. This could result in the formation of recombinant chromosomes and is viewed as a genetically determined form of increased somatic recombination in man. Endoreduplicated metaphases showed 'twin' and 'single' exchanges in a 1:2 ratio. This suggests a comparable frequency of exchanges at both divisions and provides evidence for the polarity of the chromatid subunits and the presence of a single chain of DNA.