Takabayashi T, Lin M S, Wilson M G
Mutat Res. 1984 Oct;141(2):101-4. doi: 10.1016/0165-7992(84)90018-6.
Ultraviolet light and mitomycin C (MMC) induced sister-chromatid exchanges (SCEs) were investigated in 6 diploid fibroblast strains derived from 3 patients with deletion 13 and retinoblastoma, one patient with a hereditary form of retinoblastoma, one patient with trisomy 13, and one normal control. Two fibroblast strains with del(13)(q14q22) showed a significant increase in SCEs compared to the control after UV and MMC treatments. In contrast, cell strains with del(13)(q12q14) and trisomy 13 did not show increased SCEs. The frequency of SCEs in fibroblasts from a patient with autosomal dominant retinoblastomas (no deletions) was significantly increased by UV, but not by MMC. The results suggest that cell strains with different deletions of chromosome 13 have different SCE responses to UV and MMC inductions. The cells with del(13)(q14q22) may have a DNA-repair defect.
在来自3例13号染色体缺失并患有视网膜母细胞瘤的患者、1例遗传性视网膜母细胞瘤患者、1例13三体患者以及1例正常对照的6株二倍体成纤维细胞株中,研究了紫外线和丝裂霉素C(MMC)诱导的姐妹染色单体交换(SCEs)情况。两株del(13)(q14q22)的成纤维细胞株在紫外线和MMC处理后,与对照相比SCEs显著增加。相比之下,del(13)(q12q14)和13三体的细胞株未显示SCEs增加。常染色体显性视网膜母细胞瘤(无缺失)患者的成纤维细胞中,紫外线可显著增加SCEs频率,但MMC无此作用。结果表明,13号染色体不同缺失的细胞株对紫外线和MMC诱导有不同的SCE反应。携带del(13)(q14q22)的细胞可能存在DNA修复缺陷。