中文摘要：

目的：探究SNCA基因rs3857059和PARK16基因rs16856139单核苷酸多态性（SNPs）的频率分布及与帕金森病的关联性.方法：本研究以214名中国辽宁地区汉族健康个体和213名帕金森病患者为研究对象,借助多重PCR及单一的限制性内切酶消化后的限制性片段长度多态性（RFLP）分析技术,对上述2种帕金森病易感基因中的2个SNPs位点进行等位基因多态性调查,并将所得的对照及病例组数据进行相关统计分析.结果：多重PCR-RFLP法成功地检测出2个SNPs位点的所有基因型.基因频率数据显示rs3857059位点的G等位基因频率在帕金森病患者组高于对照组,差异有统计学意义（χ2=7 592,P〈0.01,OR= 0 677,95% CI=0 517～0 888）;rs16856139位点的T等位基因频率在帕金森病患者组低于对照组,差异有统计学意义（χ2=11 511,P〈 0.01,OR= 0 390,95% CI=0 227～0 669）,这些结果提示本研究调查的2个SNPs构成了帕金森病患病的危险因素.结论：帕金森病易感基因SNCA的rs3857059和PARK16的rs16856139位点基因频率分布在中国辽宁地区汉族群体中与帕金森病相关.

英文摘要：

AIM： To investigate the genotypic frequency of rs3857059 in SNCA gene and rs16856139 in PARKI6 gene for determining the potential genetic risk factors of Parkinson disease （ PD ） in a Han Chinese population in Liaoning area of China. METHODS： The genomie DNA from 213 PD patients and 214 matched controls was amplified in the multiplex PCR system and subsequently genotyped by digestion with endonuelease Pvu II. Genetic parameter and asso- ciation studies were carried out with SPSS 13.0 and PLINK 1.07 software. RESULTS： We accurately detected all geno- types in the 2 loci with PCR -restrietion fragment length polymorphism （RFLP） techniques. The gene frequency of G allele in the rs3857059 locus was higher in PD group than that in eontrol group with statistical signifieanee（ χ2 = 7. 592 ,P 〈 0.01, OR =0.677, 95% CI = 0. 517 - 0. 888 ）. The T allele frequency in the rs16856139 locus was lower in PD group than that in control group and statistical result revealed a significant difference （ χ2 = 11. 511, P 〈 0.01, OR = 0. 390, 95% CI =0. 227 ~0.669）. CONCLUSION： The 2 SNPs investigated in SNCA and PARK16 genes are likely to play roles as eommon risk factors for PD disease in the Han Chinese population.