职业性慢性苯中毒患者血小板线粒体DNA D-loop 区基因变异分析
Variation of platelet mtDNA D-loop region in patients with chronic benzene poisoning
-
摘要:目的 检测职业性慢性苯中毒(occupational benzene poisoning, CBP)患者血小板线粒体DNA (mtDNA) D-loop 区基因变异情况, 分析它们与CBP发病的可能关系。方法 选取35例初诊的CBP患者(病例组)与35例正常体检者(对照组), 提取血小板mtDNA并对mtDNA D-loop 区序列行PCR扩增, 通过测序对PCR扩增产物基因序列进行检测, 并将测序结果与修订的剑桥标准序列和国际线粒体数据库(MITOMAP数据库)进行比对, 并比较两组的基因变异情况。结果 在D-loop 区共7个变异位点中, 相比对照组, 病例组血小板线粒体基因CA 514 d位点出现变异的OR值为5.740(95% CI:1.906~17.282, P < 0.01)。结论 CBP的血小板mtDNA D-loop 区基因变异可能与CBP发病有关。Abstract:Objective This study was aimed to detect the variation of mitochondrial DNA(mtDNA)D-loop region of platelet in patients with chronic benzene poisoning(CBP), and to analyze their association with the pathogenesis of CBP.Methods A total of 35 newly diagnosed patients with CBP and 35 references (participants in health examination) were studied. Through extracting mtDNA, the D-loop region was amplified and the sequences of PCR products were detected by sequencing methods. Then the sequencing results were compared with the revised Cambridge Reference Sequence(rCRS) and MITOMAP database. Finally the genetic variation in these two groups was compared.Results Compared with the reference group, the mutation OR value of platelet mitochondrial gene CA 514 d locus in patients with CBP was 5.740 (95%CI:1.906-17.282, P < 0.01) among 7 mutation sites in the D-loop region.Conclusion High frequency of variation in the mtDNA D-loop may be associated with the pathogenesis of CBP.