Moses R E, Beaudet A L
Nucleic Acids Res. 1978 Feb;5(2):463-73. doi: 10.1093/nar/5.2.463.
Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma pigmentosum (complementation group D), Cockayne dwarfism, Fanconi anemia and Bloom syndrome.
几种常染色体隐性疾病与细胞培养中明显的DNA修复缺陷相关。共济失调毛细血管扩张症细胞中报道的切除修复缺陷似乎可能反映了脱嘌呤内切酶活性的缺乏。我们在此报告,来自共济失调毛细血管扩张症、着色性干皮病(互补组D)、科凯恩侏儒症、范可尼贫血和布卢姆综合征患者的细胞系提取物中,脱嘌呤内切酶活性水平正常。