SNCA基因多态性与PD患者发病和临床特征的相关性分析  

Association of SNCA gene polymorphism with the morbidity and clinical features in patients with PD

作　　者：田小军[1] 郝洁[1] 邢红霞[1] 赵建华[1] 郭双喜[1] 苏洲[1] 杜佳[1] 王玉梅[1] TIAN Xiaojun;HAO Jie;XING Hongxia;ZHAO Jianhua;GUO Shuangxi;SU Zhou;DU Jia;WANG Yumei(Department of Neurology,The First Affiliated Hospital of Xinxiang Medical University,Weihui,Henan,453100,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

出　　处：《实验与检验医学》2018年第2期159-161,共3页Experimental and Laboratory Medicine

摘　　要：目的探讨ɑ-突触核蛋白(SNCA)基因多态性与帕金森病(PD)发病、临床特征的相关性。方法选取我院确诊的80例PD患者(PD组),同时选取80例年龄、性别与之匹配的健康对象作为对照组,收治时间2014年1月-2017年1月,采用聚合酶链反应(PCR)技术对SNCA基因rs356200位点的基因多态性进行检测,并分析不同基因型别患者之间的临床特征差异。结果 PD组的SNCA基因rs356200位点等位基因A所占比例67.50%显著的高于对照组的56.25%(P<0.05);PD组的SNCA基因rs356200位点A/A基因型所占比例36.25%显著的高于对照组的18.75%(P<0.05);SNCA基因rs356200位点A/A、A/G、G/G基因型三组PD患者的患者的年龄、性别、首发症状类型、UPDRS评分、PDQ39评分、MMSE评分比较,差异均不具有统计学意义(P>0.05)。结论 SNCA基因rs356200位点的基因多态性可能与PD发病有关,但是与患者临床特征无显著性相关。Objective To investigate the alpha synuclein(SNCA)gene polymorphism and its relationship to the morbidity and clinical characteristics of Parkinson disease(PD).Methods 80 cases of PD patients diagnosed in our hospital(group PD),and 80 cases of healthy subjects matched in age and sex as the control group,from January 2014 to January 2017 were selected,and SNCA rs356200 gene was detected using polymerase chain reaction(PCR)to analysis the gene polymorphisms.Then the differences between the different clinical features and the genotypes of patients were analyzed.Results The proportion of SNP rs356200 allele A in PD group was significantly higher than that in control group(67.50%vs 56.25%,P<0.05).The proportion of SNCA rs356200 A/A genotype in PD group(36.25%)was significantly higher than that in control group(18.75%,P<0.05).Among the three groups of SNCA rs356200 locus A/A,A/G,G/G genotypes,for age,gender,first symptom type,UPDRS score,PDQ39 score,and MMSE score in PD patients,the differences were not statistically significant(P>0.05).Conclusion Polymorphisms in the rs356200 locus of the SNCA gene may be related to the pathogenesis of PD,but there is no significant association between the genetic polymorphisms and the clinical features of the patients.

关 键 词：ɑ-突触核蛋白基因 基因多态性 帕金森病 临床特征 

分 类 号：R448[医药卫生—诊断学] Q78[医药卫生—临床医学]