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三种 DNA 修复基因多态性与荧光原位杂交检测到的染色体改变频率的关联。

The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization.

机构信息

Laboratory of Circulating Biomarkers, Department of Pathology, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Avenida Professor Manuel de Abreu 444, 4° andar, Vila Isabel, Rio de Janeiro, 20551-030, Brazil.

Graduation Program of Medical Sciences (PGCM), Medical Sciences Faculty (FCM), Rio de Janeiro State University, Rio de Janeiro, Brazil.

出版信息

Int Arch Occup Environ Health. 2021 Oct;94(7):1567-1577. doi: 10.1007/s00420-021-01652-8. Epub 2021 Mar 28.

DOI:10.1007/s00420-021-01652-8
PMID:33778923
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8384795/
Abstract

PURPOSE

Gas station workers (GSWs) are exposed to carcinogenic agents. The aim was to study the association of high somatic chromosome alterations (CAs) rates in the blood of GSWs and the polymorphisms of three genes playing a role in DNA double-strand break repair.

METHODS

This is a cross-sectional study with 114 GSWs and 115 age-matched controls. Cytogenetic analyses, blood exams, medical interviews and genotypes for RAD51/G135C (rs1801320), ATM/P1054R (rs1800057) and CHEK2/T470C (rs17879961) genes were performed.

RESULTS

The CA rate in GSWs was 9.8 CAs/1000 metaphases, and 19.1% of the workers had > 10 CAs per 1000 metaphases (group two). GSWs had decreased levels of monocytes (P = 0.024) in their blood exams. The number of variant alleles of the RAD51/G135C polymorphism was higher in GSWs (P = 0.011) compared to the controls, and were associated with enhanced number of CAs per worker (P = 0.008). No allele variant was found for CHEK2/T470C in this study.

CONCLUSION

The RAD51/G135C polymorphism appears to be related to genome instability in gas station workers. Increasing the knowledge of DNA repair gene variations involved in maintaining genomic stability in GSWs may be crucial for future cancer prevention.

摘要

目的

加油站工作人员(GSWs)接触致癌物质。本研究旨在探讨血液中高体细胞染色体改变(CAs)率与参与 DNA 双链断裂修复的三个基因多态性之间的关系。

方法

这是一项横断面研究,共纳入 114 名 GSWs 和 115 名年龄匹配的对照者。进行细胞遗传学分析、血液检查、医学访谈以及 RAD51/G135C(rs1801320)、ATM/P1054R(rs1800057)和 CHEK2/T470C(rs17879961)基因的基因型分析。

结果

GSWs 的 CA 率为 9.8 个/1000 个中期,其中 19.1%的工人每个 1000 个中期的 CA 数超过 10 个(第二组)。GSWs 的血液检查中单核细胞水平降低(P=0.024)。与对照组相比,RAD51/G135C 多态性的变异等位基因数在 GSWs 中更高(P=0.011),且与每个工人的 CA 数增加相关(P=0.008)。在本研究中未发现 CHEK2/T470C 的等位基因变异。

结论

RAD51/G135C 多态性似乎与加油站工作人员的基因组不稳定性有关。增加对参与维持 GSWs 基因组稳定性的 DNA 修复基因变异的认识,对于未来的癌症预防可能至关重要。

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