铁相关基因多态性与帕金森病的关联分析  

Association of iron-related gene polymorphisms with Parkinson＇s disease

作　　者：肖颖[1] 张本恕[1] 李琪[1] 李晓文[1] 

机构地区：[1]天津医科大学总医院神经内科,天津300052

出　　处：《中华神经医学杂志》2015年第7期700-702,共3页Chinese Journal of Neuromedicine

摘　　要：目的探讨铁相关基因转铁蛋白（Tf）258G／S及转铁蛋白受体（TfR）82S／G多态性与中国华北和西北地区帕金森病（PD）间的关联。方法应用聚合酶链反应．限制性片段长度多态性方法对61例华北地区PD患者（华北PD组）、56例西北地区PD患者（西北PD组）及两地各70名健康对照者之间的Tf258G／S和TfR 82S／G的基因型和等位基因分布频率进行检测。结果（1）可258G／S位点：两PD组的G等位基因和GS基因型均明显高于相应对照组，差异有统计学意义（P〈0．05）；而两PD之间、两对照组之间各基因型和等位基因分布差异均无统计学意义（P〉0.05）。（2）TfR 82S／G位点：两PD组、两对照组之间各基因型和等位基因分布差异均无统计学意义（P〉0．05）。结论（1）TfG／S位点多态性与华北、西北地区PD的发病可能存在关联，等位基因G、杂合基因型GS增加了PD的易患性。（2）TfR S／G位点多态性与中国华北、西北地区PD患者患病率无关。Objective To investigate the relationship between polymorphisms of two iron-related genes Transferrin （Tf） 258G/S and Transferrin receptor （TfR） 82S/G and Parkinson＇s disease （PD） in north and northwest China. Methods Polymerase chain reaction and restrict on fragment length polymorphism （PCR-RFLP） was used to analyze the genotypes and allele frequency distributions of Tf 258G/S and TJR 82S/G in 61 north china PD patient group and 70 randomly selected locally healthy control subjects, and in 56 northwest China PD patient group and 70 randomly selected locally healthy control subjects. Resdts （1） In allelic and genotypie distributions of Tf258 G/S, the allele G and genotype GS in two PD patient groups were both significantly higher than those in corresponding controls （P〈0.05）, but there was no significant difference between the two PD patient groups, or between the two controls （P〉0.05）. （2） There were no significant differences in allelic and genotypic distributions of TfR 82S/G between the two PD patient groups, or between the two controls （P〉0.05）. Conclusions There might be association of Tf 258 G/S gene polymorphism with north and northwest China PD patients; the allele G and genotype GS might increase susceptibility to PD. No association of TfR 82S/G gene polymorphism with north and northwest China PD patients is noted.

关 键 词：帕金森病 基因型 多态性 

分 类 号：R742.5[医药卫生—神经病学与精神病学]