泛素羧基端水解酶-L1基因两种多态与帕金森病发病的相关性

Association of two polymorphisms in ubiquitin carboxy-terminal hydrolase-L1 gene with Parkinson＇s disease in Shanghai

目的探讨泛素羧基端水解酶-L1基因（ubiquitin carboxy-terminal hydrolase-L1，UCH-L1）第3外显子C／A多态、第4外显子C／T多态与帕金森病（Parkinson’s disease，PD）发病风险的关系。方法采用聚合酶链反应．限制性片段长度多态性方法，在164例PD患者和172名健康对照者中观察UCH-L1基因C／A和C／T多态的分布，并通过比值比（oddsratio，D刖进行相关分析。结果（1）PD患者中UCH-L1第3外显子上C等位基因的频率（62．2％）明显高于对照组（51．7％）（OR=1．53，P=0．006），PD患者CC基因型的频率（36．6％）亦明显高于对照组（23．2％）（OR=1．90，P=0．008）。（2）PD患者中UCH-L1第4外显子上C／T等位基因和基因型的频率分布在PD患者和对照组问差异无统计学意义。结论UCH-L1第3外显子上C等位基因可能是PD发病的危险因子，而第4外显子上的C／T多态则与PD发病无关。

Objective To explore the relationship of polymorphisms in the ubiquitin carboxy-terminal hydrolase- L1 （UCH-L1）gene with Parkinson＇ s disease（PD）in Shanghai Han Nationality. Methods The distribution of a Serine18Tyrosine polymorphism in exon 3 （C/A） and a Serine89Phenylalanine polymorphism in exon 4（C/T） of UCH-L1 gene were detected in 164 PD cases and 172 healthy controls, using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） method. Results （1）The C allelic frequency in exon 3 of UCH-L1 gene in PD patients （62.2%） was significantly higher than that of the healthy controls（51.7 % ）（ OR = 1.53, P = 0. 006）, as was the C/C genotype （OR = 1.90, P = 0.008）. （2）There was no significant difference in the distribution of the C/T allele and genotypes in exon 4 between PD patients and healthy controls. Conclusion The C allele in exon 3 of UCH-L1 gene might be one of the risk factors for PD in Shanghai Hart Nationality, but the polymorphisms of C/T in exon 4 showed no association with the onset of PD.