Nuzzo F, Lagomarsini P, Casati A, Giorgi R, Berardesca E, Stefanini M
Istituto di Genetica Biochemica ed Evoluzionistica del C.N.R., Pavia, Italy.
Mutat Res. 1989 Jul;219(4):209-15. doi: 10.1016/0921-8734(89)90002-7.
We report the results of DNA repair studies and cytogenetic investigations in a patient presenting acute phothosensitivity and cancerous skin lesions. In lymphocytes and fibroblasts a reduced level of unscheduled DNA synthesis after UV irradiation was found and the presence of xeroderma pigmentosum, complementation group C, mutation was demonstrated by complementation analysis. In lymphocyte and fibroblast cultures the frequency of spontaneous chromosome gaps and breaks was normal, whereas the frequency of chromosome rearrangements was higher than expected. In fibroblasts from the 4th to the 18th passage of the culture, 4 reciprocal translocations with a clonal distribution were identified. The rearranged chromosomes were Nos. 2, 13, 14 and 15, Nos. 2 and 13 being both involved in 3 different translocations with breakpoints at 2q21, 2q31, 2p23 and 13q31, 13q12 or 3. The biological significance of this finding is discussed in view of a possible correlation with the DNA repair defect and a possible relevance in tumor development of specific chromosome rearrangements.
我们报告了对一名患有急性光敏感性和皮肤癌性病变患者的DNA修复研究及细胞遗传学调查结果。在淋巴细胞和成纤维细胞中，发现紫外线照射后非预定DNA合成水平降低，并且通过互补分析证实存在着色性干皮病C互补组突变。在淋巴细胞和成纤维细胞培养物中，自发染色体间隙和断裂的频率正常，而染色体重排的频率高于预期。在培养的第4代至第18代成纤维细胞中，鉴定出4种具有克隆分布的相互易位。重排的染色体为2号、13号、14号和15号染色体，2号和13号染色体均参与了3种不同的易位，断点分别位于2q21、2q31、2p23以及13q31、13q12或3。鉴于此发现可能与DNA修复缺陷相关以及特定染色体重排在肿瘤发生中的可能相关性，我们对这一发现的生物学意义进行了讨论。
