Elevated spontaneous mutation rate in Bloom syndrome fibroblasts.
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts.
复制标题
布卢姆综合征成纤维细胞自发突变率升高。
DOI：
10.1073/pnas.78.5.3133
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发表时间：
1981
影响因子：
11.1
通讯作者：
Trosko,JE
中科院分区：
文献类型：
--
作者：
Warren,ST;Schultz,RA;Chang,CC;Wade,MH;Trosko,JE
在来自正常和两个Bloom综合征个体（GM 2548和GM 1492）的成纤维细胞中测定自发突变为6-硫鸟嘌呤抗性的速率。采用两种方法来确定速率。方法I从细胞群体在10天内处于生长停滞期的突变频率的增加中获得自发突变率。两个Bloom综合征菌株每代每个细胞的自发突变率为16 × 10 ~（-6）和17 × 10 ~（-6），而两个正常菌株的自发突变率为1.5 × 10 ~（-6）和1.1 × 10 ~（-6）。方法二利用波动分析法测定自发突变率。这种方法导致每代Bloom综合征细胞中每个细胞的突变率为19 × 10（-6）和23 × 10（-6），而对照菌株的突变率为4.6 × 10（-6）和4.9 × 10（-6）。这些数据表明，布卢姆综合征可能是一种增变基因突变，以前未被认识到的现象，在人类，并在体内自发突变率升高可能是原始侏儒症的临床表型和癌症发病率增加负责。
The rates of spontaneous mutation to 6-thioguanine resistance were determined in fibroblasts derived from normal and two Bloom syndrome individuals (GM 2548 and GM 1492). Two methods were utilized to determine the rates. Method I obtained the spontaneous mutation rate from the increase in the mutation frequency of a cell population in logarithmic-phase growth over 10 days. The two Bloom syndrome strains had spontaneous mutation rates of 16 X 10(-6) and 17 X 10(-6) mutations per cell per generation, whereas two normal strains had rates of 1.5 X 10(-6) and 1.1 X 10(-6). Method II utilized fluctuation analysis to measure the rate of spontaneous mutation. This method resulted in rates of 19 X 10(-6) and 23 X 10(-6) mutations per cell per generation in Bloom syndrome cells, compared to rates of 4.6 X 10(-6) and 4.9 X 10(-6) in the control strains. These data suggest that Bloom syndrome may be a mutator mutation, a previously unrecognized phenomenon in humans, and that an elevated spontaneous mutation rate in vivo may be responsible for the clinical phenotype of primordial dwarfism and increased cancer incidence.
放射生物学进展：第 4 卷 由 John T. Lett、Howard Adler 和 Max Zelle 编辑。
DOI：
--
发表时间：
1975
期刊：
影响因子：
--
作者：
W. R. Inch
通讯作者：
W. R. Inch