Stefanini M, Lagomarsini P, Berardesca E, Borroni G, Rabbiosi G, Nuzzo F
Istituto di Genetica Biochimica ed Evoluzionistica C.N.R., Pavia, Italy.
Arch Dermatol Res. 1988;280 Suppl:S19-23.
Genetic instability in nevoid basal cell carcinoma syndrome (NBCCS) was investigated by measuring in lymphocytes obtained from four patients the level of UV-induced DNA repair synthesis, the DNA replication rate after treatment with different mutagens (UV light, mono- and bifunctional alkylating agents), the baseline mutation frequency, and the spontaneous chromosome breakage. All the parameters analyzed showed normal values; only the response to mitogens in NBCCS lymphocytes was delayed in comparison to that in normal donors. Our findings indicate that chromosomal instability and cellular UV hypersensitivity described in some NBCCS patients are not distinctive and constant features of NBCCS.
通过检测4例痣样基底细胞癌综合征（NBCCS）患者淋巴细胞中的紫外线诱导DNA修复合成水平、不同诱变剂（紫外线、单功能和双功能烷化剂）处理后的DNA复制率、基线突变频率和自发染色体断裂情况，对NBCCS中的遗传不稳定进行了研究。所有分析参数均显示正常；与正常供体相比，NBCCS淋巴细胞中对丝裂原的反应只是延迟。我们的研究结果表明，一些NBCCS患者中描述的染色体不稳定和细胞紫外线超敏反应并非NBCCS的独特和恒定特征。
