摘要
目的:研究Parkin基因4、10号外显子多态性位点S/N167、R/W366、V/L380等位基因频率与广西地区帕金森病发病的关系。方法:采用聚合酶链反应扩增27例临床确诊为早发性帕金森病患者和30例临床确诊为晚发性帕金森病患者以及110例对照者Parkin基因外显子4、10,再用限制性片段长度多态性分析法和琼脂糖凝胶电泳对多态性位点S/N167、R/W366、V/L380基因型和等位基因频率进行分析。结果:早发性帕金森病组和晚发性帕金森病组及对照组间S/N167、R/W366多态性位点等位基因频率无明显差异,早发性帕金森病组V/L380多态性位点C等位基因的频率显著高于≤50岁对照组(χ2=4.232,P<0.05),帕金森病组女性患者C等位基因频率显著高于对照组女性(χ2=6.055,P<0.05)。结论:Parkin基因外显子10的V/L380多态性可能与早发性帕金森病患者的遗传易感性有关,尤其可能与女性帕金森病患者的发病有关。
Objective:To study the allele frequencies of Parkin polymorphism S/N167,R/W366 and V/L380 at exon 4 and exon 10 in the patients with Parkinson disease in Guangxi and analyze the association between the allele frequencies of Parkin polymorphism and the etiology in the disease.Methods: The Parkin gene s exon 4 and exon 10 of 27 early-onset Parkinson disease patients,30 late-onset Parkinson disease patients and 110 controls were amplified by polymerase chain reaction.Then the exons were digested by restriction...
基金
广西自然科学基金资助(No.桂科自0339046)
