线粒体细胞色素b基因多态性与豫北地区帕金森病的关系

Relationship between mitochondrial cytochrome b gene polymorphism and Parkinson disease in northern Henan province

目的探讨线粒体细胞色素b(MT-CYB)基因多态性与豫北地区帕金森病(PD)的关系。方法选择2018年3月至2019年12月新乡医学院第一附属医院收治的104例PD患者为研究对象(PD组),另选择同期与PD组性别、年龄相匹配的95例健康体检者为对照组,抽取2组受试者清晨空腹肘静脉血4 mL,按照血液线粒体DNA提取试剂盒说明书提取线粒体DNA,采用MT-CYB基因的特异性引物序列及聚合酶链反应特异性扩增MT-CYB的基因序列,采用DNA测序分析MT-CYB基因变异情况。结果 MT-CYB基因存在m.14784 T> C位点、m.15043 G> A位点、m.15301G> A位点等3个与病变相关联的位点突变,其中PD组患者与对照组受试者m.14784 T> C位点均存在CC(纯合突变型)、CT(杂合突变型)、TT (野生型) 3种基因型,m.15043 G> A位点均存在AA(纯合突变型)、AG(杂合突变型)、GG(野生型) 3种基因型,m.15301G> A位点均存在AA(纯合突变型)、AG(杂合突变型)、GG(野生型)3种基因型。PD组患者MT-CYB基因m.14784 T> C位点CC基因型频率和C等位基因频率显著高于对照组受试者(P <0.05),TT基因型频率和T等位基因频率显著低于对照组受试者(P <0.05),CT基因型频率与对照组受试者比较差异无统计学意义(P> 0.05)。PD组患者MT-CYB基因m.15043 G> A位点GG基因型频率和G等位基因频率显著高于对照组受试者(P <0.05),AA基因型频率和A等位基因频率显著低于对照组受试者(P <0.05),AG基因型频率与对照组受试者比较差异无统计学意义(P> 0.05)。PD组患者MT-CYB基因m.15301 G> A位点AA基因型频率和A等位基因频率显著高于对照组受试者(P <0.05),GG基因型频率和G等位基因频率显著低于对照组受试者(P <0.05),AG基因型频率与对照组受试者比较差异无统计学意义(P> 0.05)。结论 MT-CYB基因多态性在豫北地区PD发病中具有重要作用,MT-CYB基因m.14784 T> C、m.15043 G> A、m.15301G> A多态性可能与豫北地区PD的发生、发展相关。

Objective To investigate the relationship between mitochondrial cytochrome b(MT-CYB)gene poly-morphism and Parkinson disease(PD)in northern Henan province.Methods A total of 104 PD patients admitted to the First Affiliated Hospital of Xinxiang Medical University from March 2018 to December 2019 were selected as the subject(PD group),and 95 healthy people who matched the gender and age of the PD group during the same period were selected as the control group.The 4 mL fasting cubit venous blood was extracted from the subjects in two groups in the morning,and mitochondrial DNA was extracted according to the instructions of the mitochondrial DNA extraction kit.The specific primer sequence of MT-CYB gene and polymerase chain reaction were used to specifically amplify MT-CYB gene sequence,the variation of MT-CYB gene was analyzed by DNA sequencing.Results The MT-CYB gene has m.14784 T>C,m.15043 G>A,m.15301G>A site mutation associated with pathological changes.There were 3 genotypes of CC(homozygous mutant type),CT(heterozygous mutant type)and TT(wild type)in all subjects at m.14784 T>C site;there were 3 genotypes of AA(homozygous mutant type),AG(heterozygous mutant type),GG(wild type)in all subjects at m.15043 G>A site;there were 3 genotypes of AA(homozygous mutant type),AG(heterozygous mutant type),GG(wild type)in all subjects at m.15301G>A site.In the PD group,the frequency of CC genotype frequency and C allele frequency at m.14784 T>C site of MT-CYB gene was significantly higher than that in the control group(P<0.05),the frequency of TT genotype frequency and T allele frequency was significantly lower than that in the control group(P<0.05),there was no statistically significant difference in the CT genotype frequency between the PD group and the control group(P>0.05).In the PD group,the frequency of GG genotype frequency and G allele frequency at m.15043 G>A site of MT-CYB gene was significantly higher than that in between the PD group and control group(P<0.05),the frequency of AA genotype frequency and A allele frequency was significantly lower than that in between the PD group and control group(P<0.05).There was no significant difference in the AG genotype frequency between the PD group and the control group(P>0.05).In the PD group,the frequency of AA genotype frequency and A allele frequency at m.15301G>A site of MT-CYB gene was significantly higher than that in control group(P<0.05),the frequency of GG genotype frequency and G allele frequency was significantly lower than that in control group(P<0.05).There was no significant difference in the AG genotype frequency between the PD group and the control group(P>0.05).Conclusion MT-CYB gene polymorphism plays an important role in the pathogenesis of PD in northern Henan.The m.14784 T>C,m.15043 G>A and m.15301G>A polymorphism in MT-CYB gene may be related to the occurrence and development of PD in northern Henan province.