Abilev S K, Sal'nikova L E, Rubanovich A V
Gig Sanit. 2011 Sep-Oct(5):14-8.
The genotypic associations of the frequencies of spontaneous and radiation-induced chromosome aberrations in human lymphocytes were studied to develop genetic tests for elevated and reduced radiosensitivity. Cytogenetic analysis and genotyping (19 sites of detoxification and DNA repair genes) were carried out for a sample of Chernobyl cleanup workers (n = 83) and for a homogenous control sample of volunteers (n = 99). In both groups, the frequency of chromosome-type aberrations proved to be elevated in carriers of minor alleles in the XPD gene (sites T2251G (Lys751Gln) and G862A (Asp312Asn)) and a combination of GSTM1-GSTT1-positive genotypes. The polymorphism of these gene did not affect the frequency of gamma-radiation-induced aberrations in the controls (1 Gy in vitro), which was associated with the alleles of the OGG1, XRCC1, and CYP1A1 genes. Thus, the frequencies of spontaneous and in vitro induced chromosome-type aberrations are associated with the alleles of different xenobiotic detoxification and DNA repair genes. At the same time, among the cleanup workers (irradiated in vivo), the elevated frequency of aberrations was observed in the carriers of the genotypes associated with the higher rate of spontaneous (but not induced in vitro) cytogenetic damages in the controls.
为开发针对辐射敏感性升高和降低的基因检测方法，研究了人类淋巴细胞中自发和辐射诱导染色体畸变频率的基因型关联。对一组切尔诺贝利清理工人（n = 83）和一组同质的志愿者对照样本（n = 99）进行了细胞遗传学分析和基因分型（解毒和DNA修复基因的19个位点）。在两组中，XPD基因（位点T2251G（Lys751Gln）和G862A（Asp312Asn））的小等位基因携带者以及GSTM1 - GSTT1阳性基因型组合中，染色体型畸变频率均被证明升高。这些基因的多态性并不影响对照组（体外1 Gy）中γ射线诱导的畸变频率，γ射线诱导的畸变频率与OGG1、XRCC1和CYP1A1基因的等位基因相关。因此，自发和体外诱导的染色体型畸变频率与不同的外源性解毒和DNA修复基因的等位基因相关。同时，在清理工人（体内受照射）中，在与对照组中自发（而非体外诱导）细胞遗传学损伤发生率较高相关的基因型携带者中观察到畸变频率升高。
