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Ultraviolet-induced chromosomal instability in cultured fibroblasts of heterozygote carriers for xeroderma pigmentosum

Journal Article · · Cancer Genetics and Cytogenetics; (USA)
Fibroblast cultures of seven patients with xeroderma pigmentosum (XP), 19 healthy sibs or parents of XP patients (XP-heterozygotes), and 24 healthy normal controls were studied for chromosome instability induced by ultraviolet rays (UV). We used a UV source that contained predominantly UV-A and UV-B at an intensity of 500 J/m2 and evaluated the induction of micronuclei (MN) and sister chromatid exchange (SCE). the XP homozygotes had a UV sensitivity that was clearly above that of all heterozygotes and normal controls. Heterozygotes had an increased rate of UV-induced MN (4.76 {plus minus} 1.96 vs. 1.82 {plus minus} 2.05, p less than 0.0001) and increased UV induction of SCE (13.21 {plus minus} 3.49 vs. 9.01 {plus minus} 1.25, p less than 0.001), as compared to normal controls. These data support epidemiologic findings that suggest that XP heterozygotes are particularly cancer prone. In addition, the determination of the UV sensitivity in vitro as described may be used for genetic counseling of asymptomatic relatives of XP patients.
OSTI ID:
7105076
Journal Information:
Cancer Genetics and Cytogenetics; (USA), Journal Name: Cancer Genetics and Cytogenetics; (USA) Vol. 43:2; ISSN 0165-4608; ISSN CGCYD
Country of Publication:
United States
Language:
English