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

作　　者：宋净洋 谷晓源 吴亦琦 范军林 范玲玲 王冠玉 王小婉 邢红霞 李超堃 SONG Jingyang;GU Xiaoyuan;WU Yiqi;FAN Junlin;FAN Lingling;WANG Guanyu;WANG Xiaowan;XING Hongxia;LI Chaokun(Department of Neurology,the First Affiliated Hospital of Xinxiang Medical University,Weihui 453100,Henan Province,China;Henan Key Laboratory of Neural Regeneration,Weihui 453100,Henan Province,China;Department of Physiology and Neurobiology,Xinxiang Medical University,Xinxiang 453003,Henan Province,China;Department of Neurology,the Third Affiliated Hospital of Xinxiang Medical University,Xinxiang 453003,Henan Province,China)

机构地区：[1]新乡医学院第一附属医院神经内科,河南卫辉453100 [2]河南省神经修复重点实验室,河南卫辉453100 [3]新乡医学院基础医学院生理学与神经生物学教研室,河南新乡453003 [4]新乡医学院第三附属医院神经内科,河南新乡453003

出　　处：《新乡医学院学报》2020年第6期544-547,551,共5页Journal of Xinxiang Medical University

基　　金：河南省科技攻关项目(编号:182102310156);河南省神经修复重点实验室开放课题(编号:HNSJXF-2018-002)。

摘　　要：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 fre

关 键 词：帕金森病 基因多态性 线粒体 线粒体细胞色素B 

分 类 号：R742.5[医药卫生—神经病学与精神病学]