Dubrova Y E, Nesterov V N, Krouchinsky N G, Ostapenko V A, Vergnaud G, Giraudeau F, Buard J, Jeffreys A J
Department of Genetics, University of Leicester, UK.
Mutat Res. 1997 Nov 28;381(2):267-78. doi: 10.1016/s0027-5107(97)00212-1.
Analysis of germline mutation rate at human minisatellites among children born in areas of the Mogilev district of Belarus heavily polluted after the Chernobyl accident has been extended, both by recruiting more families from the affected region and by using five additional minisatellite probes, including multi-locus probe 33.6 and four hypervariable single-locus probes. These additional data confirmed a twofold higher mutation rate in exposed families compared with non-irradiated families from the United Kingdom. An elevated rate was seen at all three independent sets of minisatellites (detected separately by multi-locus probes 33.15, 33.6 and six single-locus probes), indicating a generalised increase in minisatellite germline mutation rate in the Belarus families. Within the Belarus cohort, mutation rate was significantly greater in families with higher parental radiation dose estimated for chronic external and internal exposure to caesium-137, consistent with radiation induction of germline mutation. The spectra of mutation seen in the unexposed and exposed families were indistinguishable, suggesting that increased mutation observed over multiple loci arises indirectly by some mechanism that enhances spontaneous minisatellite mutation.
对白俄罗斯莫吉廖夫地区受切尔诺贝利事故严重污染区域出生儿童的人类小卫星序列种系突变率分析进行了扩展,一方面从受影响地区招募了更多家庭,另一方面使用了另外五个小卫星序列探针,包括多位点探针33.6和四个高变单一位点探针。这些额外数据证实,与来自英国的未受辐射家庭相比,受辐射家庭的突变率高出两倍。在所有三组独立的小卫星序列(分别由多位点探针33.15、33.6和六个单一位点探针检测)中均观察到突变率升高,这表明白俄罗斯家庭的小卫星序列种系突变率普遍上升。在白俄罗斯队列中,根据慢性外部和内部暴露于铯-137估算的父母辐射剂量较高的家庭,其突变率显著更高,这与种系突变的辐射诱导一致。未受辐射和受辐射家庭中观察到的突变谱没有区别,这表明在多个位点观察到的突变增加是由某种增强小卫星序列自发突变的机制间接引起的。