Fukuchi K, Tanaka K, Kumahara Y, Marumo K, Pride M B, Martin G M, Monnat R J
Department of Medicine and Geriatrics, Osaka University Medical School, Japan.
Hum Genet. 1990 Feb;84(3):249-52. doi: 10.1007/BF00200569.
The frequency of spontaneous 6-thioguanine (TG)-resistant peripheral blood lymphocytes in five unrelated Werner syndrome (WS) patients was determined using an autoradiographic labeling assay. The average frequency of TG-resistant lymphocytes was eightfold higher in WS patients than in sex- and age-matched normal control donors. This finding and previous identification of increased spontaneous chromosomal rearrangements and deletions in WS cells or cell lines suggest that WS is a human genomic instability or mutator syndrome.
使用放射自显影标记测定法确定了5名无亲缘关系的沃纳综合征(WS)患者中自发的6-硫鸟嘌呤(TG)抗性外周血淋巴细胞的频率。WS患者中TG抗性淋巴细胞的平均频率比性别和年龄匹配的正常对照供体高8倍。这一发现以及先前在WS细胞或细胞系中发现的自发染色体重排和缺失增加表明,WS是一种人类基因组不稳定或突变综合征。