少数民族帕金森病患者α-突触核蛋白和PARK基因突变与多态性的研究

Study on PARK α-synuclein gene mutation and polymorphism of minority patients with Parkinson

目的分析兴义市少数民族帕金森病（Parkinson’s disease,PD）患者PARK基因突变与多态性分布的特点及其与PD的关系,为基因治疗研究打下基础。方法收集PD患者,提取原发性PD患者（PD组,包括布依族和苗族）及对照者（正常对照组及汉族PD患者）基因组DNA,采用PCR方法扩增α-突触核蛋白（SNCA）和PARK基因1～8号外显子,对其扩增产物进行测序,斑点杂交法验证其基因型和等位基因频率,计算基因频率和等位基因频率,并进行统计学分析。结果 PD组SNCA基因中T/T、C/T基因型高于对照组,但无统计学意义（P〉0.05）,PD组患者GG、G等位基因频率高于对照组,差异不明显（P〉0.05）。布依族、苗族PD组患者SNCA基因T/T、T基因型频率显著高于同族健康对照组（P〈0.05）,布依族、苗族健康人T/T、C/T、T基因频率显著低于汉族健康人（P〈0.05）,几组患者G等位基因携带者发生PD风险性没有统计学差异（P〉0.05）,T等位基因携带者发生PD风险性显著高于非携带者（P〈0.05）。布依族、苗族PD患者GG、G基因型频率显著高于对照组（P〈0.05）,G等位基因携带者发生PD风险性显著高于非携带者（P〈0.05）,几组患者G等位基因携带者发生PD风险性没有统计学差异（P〉0.05）。结论贵州省少数民族PD患者SNCA基因rs3822086位点和PAPK16基因rs947211多态性可能是潜在易感位点,G等位基因、T等位基因携带者发生PD风险性较高。

Objective To analyze the characteristics of PARK gene mutation and polymorphism distribution and its relationship with PD in the minority patients with Parkinson’s disease（ disease PD,Parkinson’s） in Xingyi city,and to lay a foundation for gene therapy research. Methods Primary patients with PD（ PD group of PD were selected,including the Bouyei and Miao）and control persons（ normal control group and the Han patients with PD） genomic DNA by PCR amplification alpha synuclein（ SNCA） and gene Park 1- 8 exon,the amplification products were sequenced and dot blot hybridization method was used to verify the genotype and allele frequency,gene frequency and allele frequency were calculated,and all the data was statistically analyzed. Results In PD group,the SNCA and C / T genotypes were higher than those in the control group,but there was no statistical significance（ P 〉 0. 05）. The frequencies of GG and G alleles in patients with PD were higher than those in the control group,the difference was not significant（ P 〉 0. 05）. The Buyi,Miao PD SNCA gene T / T,the genotype frequency was significantly higher than that of the cognate healthy control group（ P 〈 0. 05）,the healthy Buyi and Miao people t / T,C / T and T / T gene frequency were significantly lower than that of healthy persons of the Han nationality（ P 〈 0. 05）,several groups of patients with G allele carriers happened PD risk there was no statistically significant difference（ P 〉 0. 05）. T allele carriers had PD risk was significantly higher than that in non carriers（ P 〈 0. 05）. Buyi,Miao GG in patients with PD,G genotype frequency was significantly higher than that of control group（ P 〈 0. 05）,G allele carriers happen PD risk was significantly higher than that in non carriers（ P 〈 0. 05）,several groups of patients with G allele carriers happened PD risk there was no statistically significant difference（ P 〉 0. 05）. Conclusion SNCA gene rs3822086 and rs947211 gene PAPK16 polymorphism may be potential susceptibility loci in minority PD patients in Guizhou Province,and the risk of PD is higher in G allele and T allele carriers.