Hansson J, Lööw H
Department of General Oncology, Radiumhemmet, Karolinska Hospital, Stockholm, Sweden.
Melanoma Res. 1994 Jun;4(3):163-7. doi: 10.1097/00008390-199406000-00004.
Hereditary dysplastic naevus syndrome (DNS) is a familial disorder characterized by dysplastic naevi and an approximately 85-fold increased risk of developing malignant cutaneous melanoma. Cell lines from individuals with DNS have shown hypermutability following exposure to UV irradiation. The cause of this hypermutability is unknown, and no DNA repair defect has been identified. We have studied the capacity of lymphocytes from individuals with DNS to reactivate the chloramphenicol acetyltransferase gene in transfected plasmids that had been inactivated by UV irradiation. We found no difference in plasmid reactivation between lymphocytes from individuals with DNS and those obtained from healthy control persons matched for sex, age and smoking habits. This finding indicates that DNS is not associated with a significant quantitative defect in nucleotide excision repair of DNA.
遗传性发育异常痣综合征（DNS）是一种家族性疾病，其特征为发育异常痣，患皮肤恶性黑色素瘤的风险增加约85倍。DNS患者的细胞系在紫外线照射后显示出高突变性。这种高突变性的原因尚不清楚，且未发现DNA修复缺陷。我们研究了DNS患者淋巴细胞重新激活经紫外线照射而失活的转染质粒中氯霉素乙酰转移酶基因的能力。我们发现，DNS患者的淋巴细胞与按性别、年龄和吸烟习惯匹配的健康对照者的淋巴细胞在质粒重新激活方面没有差异。这一发现表明，DNS与DNA核苷酸切除修复的显著定量缺陷无关。
