DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan.
复制标题
日本色素性干皮病患者的 DNA 修复特征和皮肤癌。
作者：
Hiraku Takebe;Yoshiharu Miki;Takehito Kozuka;Jun;Kiyoji Tanaka;Masao S. Sasaki;Yoshisada Fujiwara;Hiroshi Akiba
对日本50名着色性干皮病患者进行了临床特征和细胞DNA修复检查，其中22名患者患上了皮肤癌。大多数没有皮肤癌的患者是儿童，除了5名年龄较大的患者，他们的细胞中有中等或接近正常水平的DNA修复。所有年龄小于10岁的患者在紫外线照射后无或极低的程序外DNA合成活性。发现了A、D、E三个基因互补组和变异体，与C组患者最常见的欧洲和美国相比，日本患者具有许多A组患者，没有C组患者。细胞DNA修复能力低的患者的高频率可能是日本着色性干皮病患者明显高频率的原因。癌症患者的年龄分布及其DNA修复特征表明，几乎所有着色性干皮病患者都会发生皮肤癌，除非他们的细胞具有接近正常水平的DNA修复。
Fifty xeroderma pigmentosum patients in Japan were examined for clinical characteristics and DNA repair of their cells, Skin cancers developed in 22 patients. Most of the patients without skin cancers were children, except for 5 older patients who had intermediate or nearly normal levels of DNA repair in their cells. All patients younger than 10 years old had no or very low activity of unscheduled DNA synthesis after ultraviolet light irradiation. Three genetic complementation groups, A, D, and E, and variants were found. Many Group A patients and no Group C patients characterized Japanese patients, compared with those in Europe and the United States, where Group C patients were most frequent. The high frequency of patients with low DNA repair capacities in their cells may account for the apparent high frequency of xeroderma pigmentosum patients in Japan. Age distribution of the cancer-bearing patients and their DNA repair characteristics suggest that almost all xeroderma pigmentosum patients will develop skin cancers unless their cells have nearly normal levels of DNA repair.