关键词: 共济失调性毛细血管扩张症突变基因, 单核苷酸多态性, 染色体畸变, 职业性长期小剂量辐射, 敏感性

Abstract:

Objective To study the correlation of the single nucleotide polymorphisms （SNP） of ataxia telangiectasia（AT）-mutated gene（ATM）with occupational radiation-induced chromosome damage,to investigate the molecular mechanism of occupational radiation-induced chromosome damage and the differences of individual radiation sensitivity,and to provide a reference for high-risk population screen. Methods A total of 87 workers being exposed to X-ray,γ-ray and β-ray and suffering from chromosome aberration were enrolled. Applying 1∶1 pair matching case-control design,87 workers with normal chromosome and hemogram as well as similar annual radiation exposure（annual radiation dose≤1 mSv）,same sex and similar age were enrolled as control group. Three SNP sites,rs373759,rs189037 and rs4988044,were selected. SNaPshot technique,which was on the basis of fluorescent labeling single-nucleotide extension（SNE） reaction,was applied to genotyping. Results In rs189037,G>A base transition variation was found. The frequency of GA/AA genotype in chromosome damage group was 81.6%,which was higher than that in control group{64.4%;χ²=5.297,P<0.05;odds ratio（OR）[95% confidence interval（CI）]=2.364（1.136-4.919）}. The frequency of rs189037 A allele in chromosome damage group（53.4%） was higher than that in control group[44.3%;χ²=2.944,P>0.05; OR（95%CI）=0.691（0.453-1.054）]. There was no statistical significance in genotype distribution and allele frequencies of rs373759 and rs4988044 between chromosome damage group and control group（P>0.05）. Conclusions GA/AA genotype in rs189037 increase individual radiation sensitivity. There is no correlation between the SNP of rs373759 and rs4988044 and radiation-induced chromosome damage. Radiation-induced chromosome damage is affected by the SNP of ATM gene.

Key words: Ataxia telangiectasia-mutated gene, Single nucleotide polymorphisms, Chromosome aberration, Occupational long-term low-dose radiation, Sensitivity