Summary
Cultured lymphocytes from 9 patients with clinically different types of xeroderma pigmentosum were exposed to ultraviolet light at 24 h. An increased rate of sister chromatid exchanges was observed in 6 patients (128–148% increase in three, 34–51% in three), but not in three patients with deSanctis-Cacchione syndrome (xeroderma pigmentosum with mental defect), compared to simultaneously cultured controls. A positive result could be useful as preliminary cytogenetic diagnostic test. The results are interpreted as an expression of UV-light induced chromosomal instability due to impaired DNA repair.
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Schönwald, A.D., Passarge, E. UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes. Hum Genet 36, 213–218 (1977). https://doi.org/10.1007/BF00273260
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DOI: https://doi.org/10.1007/BF00273260