Parkin基因第4号外显子多态性与帕金森病关系的研究

The relationship between parkin gene polymorphism and Parkinson’s disease

目的 探讨 parkin基因第 4外显子G/A多态与帕金森病 (PD)易患性之间的关系。 方法 采用聚合酶链式反应 限制性片断长度多态性方法 (PCR RFLP) ,观察 1 55例PD患者、1 92名健康人对照组中 parkin基因多态的分布 ,并与澳大利亚白种人的研究结果进行比较。 结果 (1 )PD患者与正常对照组间parkin基因第 4外显子G/A多态基因型和等位基因分布差异均无显著意义 (等位基因以G为主 ,频率分别为 54 2 %和 52 9% ,χ2 =0 31 8;基因型以GA型为主 ,频率分别为 51 6 %和 43 2 % ,χ2 =1 433 ,均P >0 0 5) ;发病年龄以 50岁为界分成早发组与晚发组后 ,早发组与晚发组人群中该多态的分布差异亦无显著意义 (基因型 χ2 =1 1 6 ,等位基因 χ2 =0 0 4 9,均P >0 0 5)。 (2 )上海汉族人该基因的多态分布与澳大利亚白种人的差异有非常显著意义 (χ2 =2 0 6 448,P <0 0 0 1 ) ;上海汉族人以GA基因型为主 (51 6 % ) ,澳大利亚白种人以GG基因型为主 (92 7% )。结论 上海汉族人parkin基因第 4外显子G/A多态与PD易患性关系不大 ;上海汉族人与澳大利亚白种人该多态分布不同。

Objective Many cases showed that the autosomal recessive juvenile Parkinsonism (AR JP) was secondary to abnormalities in the Parkin gene,and certain parkin gene linked families contained the affected members with clinical features indistinguishable from classical idiopathic Parkinson disease (PD) And there remained conflicting conclusions in the parkin gene investigations To further investigate the different populations or ethnic backgrounds Methods Polymorphism of the parkin gene was studied using PCR/RFLP in those 155 patients unrelated with idiopathic Parkinson’s disease and the 192 with sex and age matched healthy controls Results No difference in the distribution of parkin gene exon 4 G/A genotype and allele polymorphisms was found between PD cases and healthy controls (genotype GA 51 6%∶43 2%, χ 2=1 433; allele G 54 2%∶52 9%, χ 2=0 318, P >0 05) There were also no significant differences between early onset (≤50 years old) and late onset group(>50 years old) (genotype GG 29 0∶28 2, GA 48 4∶52 4, AA 22 6∶19 4; allele G 53 2∶54 4) However, the distribution of parkin G/A genotype polymorphism was significantly different from that of Australian (PD: genotype χ 2=206 45; Han: GA 51 6%, Australian: GG 96 6% Control: χ 2=177 98; Han: GA 43 2%, Australian: GG 92 7 P <0 001) Conclusion The parkin G/A polymorphism might not be a susceptible factor for PD in Hans, suggesting that there should be a racial difference in Parkin gene AlwNI polymorphism