| Literature DB >> 858627 |
Abstract
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 were 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.Entities:
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Year: 1977 PMID: 858627 DOI: 10.1007/BF00273260
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132