新疆维吾尔族和汉族帕金森病Parkin基因S/N 167多态性研究

Polymorphism of Parkin Gene S/N 167 of Parkinson′s Disease in Xinjiang Uygur and Han Nationality

目的探讨Parkin基因第4外显子多态性位点S/N 167与新疆维吾尔族(维族)、汉族帕金森病(PD)之间的关系。方法以156例维族、汉族原发性PD患者作为病例组,192例健康体检者作为对照组,提取基因组DNA,采用聚合酶链反应(PCR)扩增所需Parkin基因第4外显子基因片段,用限制性内切酶酶切技术测定病例组和对照组的基因型频率和等位基因频率。结果病例组与对照组S/N 167基因型频率、等位基因频率间差异均无统计学意义(2χ分别为1.759和0.006,P均>0.05);新疆维族病例组与汉族病例组的基因型频率、等位基因频率间差异均无统计学意义(2χ值分别为2.134和1.734,P>0.05)。结论 Parkin基因第4外显子S/N167多态性可能与维族及汉族PD患者的遗传易感性无关。

Objective To observe the association between polymorphism S/N 167 at exon 4 and Parkinson＇s disease （PD） in Xinjiang Uygurs and Hans. Methods The genetic DNA was extracted from 156 PD patients of Uygur and Han Ethnic group and 192 normal controls. The Parkin gene＇s exon 4 were amplified by polymerase chain reaction （PCR）. Then the exons were digested by restriction fragment length polymorphism. The gene type and allele frequency were identified by agarose gel electrophoresis to observe polymorphism at S/N 167. Results There was no difference between PD group and control group in S/N 167 polymorphism allele and genotype frequency （X2 = 1. 759; 0. 006, P 〉 0. 05）. There was no difference between Uygur Eth- nic and Han Ethnic in S/N167 polymorphism allele and genotype frequency （X2 =2. 134; 1. 734, P 〉0. 05）. Conclusion Our findings suggest that polymorphism at S/N 167 of Parkin might not be associated with genetic susceptibility in Parkinson disease patients from Uygur ethnic and Han ethnic.