Seguin L R, Tarone R E, Liao K H, Robbins J H
Dermatology Branch, National Cancer Institute, Bethesda, MD 20892.
Am J Hum Genet. 1988 Mar;42(3):468-75.
Both Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are inherited diseases with defective repair of damage induced in DNA by UV. Patients with XP, but not those with CS, have an increased susceptibility to formation of sunlight-induced skin tumors. We determined the frequency of UV-induced chromosomal aberrations in cultured lymphoblastoid cell lines from five CS patients and three complementation-group-C XP patients to determine whether such aberrations were abnormally increased only in the XP cells. We found that CS cells had the same abnormally increased number of induced aberrations as the XP cells, indicating that the number of UV-induced aberrations in XP group C cells does not account for the susceptibility of these XP patients to sunlight-induced skin cancer.
科凯恩综合征(CS)和着色性干皮病(XP)均为遗传性疾病,其DNA受紫外线损伤后的修复存在缺陷。XP患者而非CS患者对日光诱导的皮肤肿瘤形成更为敏感。我们测定了5例CS患者和3例C组互补型XP患者的培养淋巴母细胞系中紫外线诱导的染色体畸变频率,以确定此类畸变是否仅在XP细胞中异常增加。我们发现,CS细胞中诱导畸变的异常增加数量与XP细胞相同,这表明C组XP细胞中紫外线诱导的畸变数量并不能解释这些XP患者对日光诱导皮肤癌的易感性。