二价金属离子转运蛋白1基因多态性与原发性帕金森病患者中脑黑质铁沉积的关系

Relationship between divalent metal transporter 1 gene polymorphism and iron deposition in substantia nigra in idiopathic Parkinson's disease

目的:探讨二价金属离子转运蛋白1(DMT1)的基因多态性与原发性帕金森病患者中脑黑质铁沉积的关系。方法:收集行经颅超声检查的原发性帕金森病患者共120例,根据结果将患者分为超声阳性组(有铁沉积,n=67)和超声阴性组(无铁沉积,n=53)。采用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)技术,比较2组患者DMT1基因rs6580779位点的多态性。结果:2组之间的基因型、最小等位基因频率分布的差异皆无统计学意义,超声阳性组和阴性组的基因型AA、AC频率分别为98.5%、1.5%和94.3%、5.7%(P=0.20),2组的最小等位基因频率分别为0.7%和2.8%(P=0.24)。晚发病型患者在超声阳性组与阴性组之间没有显著差异。结论:DMT1基因多态性位点rs6580779的分布在原发性帕金森病患者超声阳性与阴性组中无统计学差异,其变异与原发性帕金森病患者中脑黑质铁沉积无明显关联。

Objective To investigate the relationship between divalent metal transporter 1 （DMT1）gene polymorphism and iron overload in substantia nigra （SN） in idiopathic Parkinson＇s disease （PD）. Methods One hundred and twenty PD patients were divided into sonography positive group （with iron deposition） （n=67） and sonography negative group （without iron deposition）（n=53） by transcranial sonography（TCS）. The gene polymorphism at DMT1 rs6580779 locus was determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results No significant differences were found in genotypes, distribution of minor allele frequency between sonography positive and sonography negative groups, even after stratified by age of onset. The genotype frequency in sonography positive group was 98.5% and 1.5% while was 94.3% and 5.7% in sonography negative group （P=0.20）; the frequency of minor allele was 0.7% and 2.8%, respectively （P=0.24）. Conclusions No apparent association was found between rs6580779 locus in DMT1 gene and iron deposition in idiopathic Parkinson＇s disease.