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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 To investigate the relationship between polymorphism of parkin gene exon 4 G / A polymorphism and susceptibility to Parkinson’s disease (PD). Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) method was used to detect the distribution of parkin gene polymorphism in a total of 1 55 healthy PD patients and 1 92 healthy controls. The results were compared with the Caucasian Caucasian study The results are compared. Results (1) There was no significant difference in genotypes and alleles of G / A polymorphism in exon 4 of parkin gene between PD patients and normal controls (G allele was predominant, with frequency of 54 2% And 52 9%, χ2 = 0 31 8 respectively. The genotypes were GA type with frequency of 51 6% and 43 2% respectively, χ2 = 1 433, all P 0 05). The age of onset was 50 years old There was no significant difference in the distribution of the polymorphism among the early-onset group and the late-onset group (P <0.05) > 0 0 5). (2) The polymorphism distribution of Shanghai Han population was significantly different from that of Caucasians in Australia (χ2 = 2 0 6 448, P 0 01). The GA genotype was predominant in Shanghai Han 6%), and Caucasian Australians dominated the GG genotype (92.7%). Conclusion The G / A polymorphism of exon 4 of parkin gene in Shanghai Han population is not related to the susceptibility to PD. The distribution of polymorphism in Shanghai Han population and Australian white population is different.