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沃纳综合征患者中对6-硫鸟嘌呤耐药的外周血淋巴细胞频率增加。

Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients.

作者信息

Fukuchi K, Tanaka K, Kumahara Y, Marumo K, Pride M B, Martin G M, Monnat R J

机构信息

Department of Medicine and Geriatrics, Osaka University Medical School, Japan.

出版信息

Hum Genet. 1990 Feb;84(3):249-52. doi: 10.1007/BF00200569.

Abstract

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.

摘要

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。

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