Zakrzewski S, Koch M, Sperling K
Hum Genet. 1983;64(1):55-7. doi: 10.1007/BF00289479.
Hybrids were performed between cell lines derived from four patients with Fanconi's anemia in which different biochemical lesions have been postulated. Complementation studies in these hybrids based on the rate of mitomycin C-induced chromosomal damage supported the concept of allelic mutations. It was therefore concluded that intergenic heterogeneity plays a much lower role in Fanconi's anemia than in Xeroderma pigmentosum or Ataxia teleangiectasia, two other disorders with defective DNA repair.
对来自四名范可尼贫血患者的细胞系进行了杂交实验,这些患者被推测存在不同的生化损伤。基于丝裂霉素C诱导的染色体损伤率对这些杂交细胞系进行的互补研究支持了等位基因突变的概念。因此得出结论,与另外两种DNA修复缺陷疾病——着色性干皮病或共济失调毛细血管扩张症相比,基因间异质性在范可尼贫血中所起的作用要小得多。