Evans H J
Mutat Res. 1982 Aug;105(1-2):107-13. doi: 10.1016/0165-7992(82)90216-0.
Blood samples from 4 Down's syndrome (DS) patients with a 47,XY,21 + karyotype and from 4 normal male probands were cultured for 72 h in the presence of BrdU and lymphocytes analysed at their first mitosis for chromosomal aberrations. The frequencies of spontaneous aberrations and the proportions of cells in the first or later mitoses in culture were not different between the groups. Treatment with various doses of bleomycin in vitro resulted in similar delays in cell development for both DS and normal lymphocytes and dose-dependent increases in the incidence of chromosome-type aberrations. However, the induction of both dicentric aberrations and acentric fragments was significantly enhanced in DS cells relative to cells of normal karyotype.
对4名核型为47,XY, + 21的唐氏综合征（DS）患者和4名正常男性先证者的血样在存在溴脱氧尿苷（BrdU）的情况下培养72小时，并在其第一次有丝分裂时分析淋巴细胞的染色体畸变。两组之间自发畸变的频率以及培养中处于第一次或后续有丝分裂的细胞比例没有差异。体外使用不同剂量的博来霉素处理导致DS淋巴细胞和正常淋巴细胞的细胞发育出现相似的延迟，并且染色体型畸变的发生率呈剂量依赖性增加。然而，相对于正常核型的细胞，DS细胞中双着丝粒畸变和无着丝粒片段的诱导均显著增强。
