燃煤污染型砷中毒患者GST基因多态性与GST酶活力的关系

Relationship between Glutathione S-transferase Genetic Polymorphism and Glutathione S-transferase Activity in Arsenism Caused by Coal-buring

目的:探讨燃煤污染型砷中毒患者谷胱甘肽硫转移酶(GST)基因多态性与GST酶活力的关系,为深入了解砷中毒的致病机制提供实验依据。方法:选择130例燃煤污染型砷中毒患者和140例健康人作为研究对象,采用多重等位基因特异聚合酶链反应(多重PCR)检测GSTM1、GSTT1基因缺失;采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测GSTP1 Ile105Val、GSTO1 Ala140Asp、GSTO2 Asn142Asp基因多态性;采用化学比色法检测谷胱甘肽硫转移酶(GST)活力,并分析上述基因多态性与GST酶活力的关系。结果:GSTT1基因缺失基因型、非缺失基因型以及GSTO2 Asn142Asp基因Asn/Asn、Asn/Asp、Asp/Asp基因型,在砷中毒组和对照组的分布差异有统计学意义(P<0.05);砷中毒患者GST酶活力增高,与对照组相比差异有统计学意义(P<0.05);砷中毒组和对照组GSTO1Ala140Asp基因不同基因型间的GST酶活力有差异(砷中毒组P>0.05,对照组P<0.05);未发现GSTM1、GSTT1、GSTP1 Ile105Val、GSTO2 Asn142Asp多态性与GST酶活力有关。结论:GS-TO1 Ala140Asp基因多态性可能影响燃煤污染型砷中毒患者的GST酶活力,其原因尚需进一步研究。

Objective： To explore the relationship between glutathione S-transferase （GST）genetic polymorphisms and GST activity in coal-buring caused arsenism and provide a scientific basis for a more in-depth explanation to arsenism mechanism. Methods： One hundred ant thirty arsenism patients and 140 healthy people were chosen as subjects of the study. Multiple polymerase chain reaction （ mul- tiplex PCR） was used to detect deletion of GSTM1, and GSTF1. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to detect polymorphisms of GSTP1, Ilel05Val, GSTO1 Aia140Asp, and GSTO2 Asn142Asp. Chemistry chromatometry method was used to detect GST activity. The relationship between the genetic polymorphisms and GST activity was analyzed. Results： The frequencies of GSTF1^（-/-）, GSTTI^（＋/＋）or（＋/-） and genotypes Asn/Asn, Ash/ Asp and Asp/Asp of gene GSTO2 Asn142Asp were significantly different between arsenism group and control group （ P 〈 0.05 ）. GST activity of arsenism patients increased when compared with that of controls. The difference was statistically significant（P 〈0.05 ）. GST activity of different genotypes of GS-TO1 Ala140Asp phism of GSTO1 Further research was different between arsenism Ala140Asp on function may relate to GST group and control group. Conclusion： Gene polymor- activity of arsenism patients caused by coral-burning. and transcription regulation of the gene is needed.