CAJ | 학술논문

目的：探讨 Parkin 基因多态性与山东省汉族人群帕金森病（PD）发病之间的关系。方法应用 DNA 测序及限制性内切酶酶切技术检测山东省汉族人群中145例 PD 患者（PD 组）及126名健康查体者（对照组）Parkin 基因的3个单核苷酸多态（Ser167Asn、Val380Leu 及 Arg366Trp）的等位基因频率，其中 PD 组包括早发性帕金森病（EOPD）患者67例与晚发性帕金森病（LOPD）患者78例，分析上述3个多态位点 PD 发病风险中的意义。结果PD 组与对照组的 Ser167Asn、Val380Leu 及 Arg366Trp 3个多态位点等位基因频率均无明显差异；PD 组中 EOPD患者 Ser167Asn、Arg366Trp 位点与 LOPD 患者相比，等位基因频率亦无明显差异；EOPD 患者 Val380Leu 位点与LOPD 患者相比，等位基因频率存在显著性差异（P ＝0．01，OR ＝3．39，95％CI：1．287～8．931）。结论山东省汉族人群 Parkin 基因 Ser167Asn、Val380Leu 及 Arg366Trp 多态位点可能与 PD 的发病无明显相关性，其中 Val380Leu可使 PD 的发病年龄提前。
목적：탐토 Parkin 기인다태성여산동성한족인군파금삼병（PD）발병지간적관계。방법응용 DNA 측서급한제성내절매매절기술검측산동성한족인군중145례 PD 환자（PD 조）급126명건강사체자（대조조）Parkin 기인적3개단핵감산다태（Ser167Asn、Val380Leu 급 Arg366Trp）적등위기인빈솔，기중 PD 조포괄조발성파금삼병（EOPD）환자67례여만발성파금삼병（LOPD）환자78례，분석상술3개다태위점 PD 발병풍험중적의의。결과PD 조여대조조적 Ser167Asn、Val380Leu 급 Arg366Trp 3개다태위점등위기인빈솔균무명현차이；PD 조중 EOPD환자 Ser167Asn、Arg366Trp 위점여 LOPD 환자상비，등위기인빈솔역무명현차이；EOPD 환자 Val380Leu 위점여LOPD 환자상비，등위기인빈솔존재현저성차이（P ＝0．01，OR ＝3．39，95％CI：1．287～8．931）。결론산동성한족인군 Parkin 기인 Ser167Asn、Val380Leu 급 Arg366Trp 다태위점가능여 PD 적발병무명현상관성，기중 Val380Leu가사 PD 적발병년령제전。
Objective To investigate the relationship between polymorphisms in Parkin gene and the risk of Parkinson’s disease(PD)in Han nationality of Shandong province.Methods The alleles of three polymorphisms(Ser167Asn, Val380Leu and Arg366Trp)in Parkin gene in 145 PD patients(PD group)and 126 people who undertook health exami-nation(control group)in Han population of Shandong Province were analyzed by DNA sequencing and restricted endo-nuclease digestion.PD group included 67 patients with early-onset Parkinson’s disease(EPOD)and 78 patients with late-onset parkinson’s disease (LOPD).Results There were no significant difference in the three polymorphisms (Ser167Asn,Val380Leu and Arg366Trp)between PD group and control group;In PD group,The allele frequencies in Ser167Asn and Arg366Trp of EOPD patients showed no significant difference with LOPD patients.The allele frequency in Val380Leu of EOPD patients was significantly higher than LOPD patients(P =0.01,OR =3.39,95%CI:1.287-8.931).Conclusion The three polymorphisms(Ser167Asn,Val380Leu and Arg366Trp)in Parkin gene may be not associated with PD in Han nationality of Shandong province,and Val380Leu may make the onset age of PD in advance.