【摘要】 目的探讨中国粤西地区汉族人群泛素特异蛋白酶24(USP24)基因内含子rs12138592A/G单核苷酸多态性与帕金森病(PD)的关系。方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法测定81例PD患者(病例组)与100名健康成人(对照组)USP24基因内含子rs12138592A/G位点多态性。结果 病例组GG基因型为77.8%,对照组为62.0%(χ2=5.213,P=0.022)。G等位基因频率在病例组和对照组分别为88.3%和79.5%(χ2=4.980,P=0.026)。结论 USP24基因内含子rs12138592A/G位点的G等位基因与GG基因型均可以增加PD的患病风险。更多还原

【Abstract】 Objective To investigate the relationship between Parkinson disease(PD) and intron rs12138592 A/G polymorphism of ubiquitin specific proteases(USP24) gene in Han population of the Western Guangdong province in China.Methods 81 PD cases and 100 ethnically matched controls were investigated USP24 gene rs12138592 A/G polymorphism with polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP).Results The incidence of GG genotype was 77.8% in the cases and 62.0% in the controls(χ2=5.213,P=0.022),and the G allele was 88.3% in the cases,79.5% in the controls(χ2=4.980,P=0.026).Conclusion The G allele and GG genotype of USP24 gene rs12138592 A/G polymorphism can increase the risk of suffering from PD.更多还原