Familial melanoma associated with dominant ultraviolet radiation sensitivity.
Familial melanoma associated with dominant ultraviolet radiation sensitivity.
复制标题
家族性黑色素瘤与主要的紫外线辐射敏感性相关。
作者：
R. Ramsay;P. Chen;F. Imray;C. Kidson;M. Lavin;A. Hockey
对紫外线辐射的敏感性进行了研究，淋巴母细胞样细胞系来自两个家族的32名成员，在几代中有多个原发性黑色素瘤的历史。如通过琼脂中的菌落形成或通过照射后的台盼蓝排除所测定的，细胞敏感性显示双峰分布。所有患有黑色素瘤或多发性痣的人都属于敏感组，而一些家庭成员表现出与对照组相似的反应。来自四例散发性黑色素瘤的细胞显示出正常的敏感性水平。这些数据与这些家族性黑色素瘤病例相关的显性遗传性紫外线敏感性一致。自发和紫外光诱导的姐妹染色单体交换频率与对照细胞系相似。在上述任何细胞系中均未检测到切除修复缺陷，但敏感组显示出介于对照组和切除缺陷型着色性干皮病细胞系之间的DNA复制的辐射后抑制。
Sensitivity to ultraviolet radiation was studied in lymphoblastoid cell lines derived from 32 members of two families with histories of multiple primary melanomas in several generations. As assayed by colony formation in agar or by trypan blue exclusion following irradiation, cellular sensitivity showed a bimodal distribution. All persons with melanoma or multiple moles were in the sensitive group, while some family members exhibited responses similar to those of controls. Cells from four cases of sporadic melanoma showed normal levels of sensitivity. The data are consistent with a dominantly inherited ultraviolet light sensitivity associated with these examples of familial melanoma. Spontaneous and ultraviolet light-induced sister chromatid exchange frequencies were similar to those in control cell lines. No defect in excision repair was detected in any of the above cell lines, but the sensitive group showed postirradiation inhibition of DNA replication intermediate between controls and an excision-deficient xeroderma pigmentosum cell line.