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目的 探讨 parkin基因 S/N16 7多态性与散发性帕金森病 (Parkinson’s disease,PD)的遗传易感性的关系。方法 以 12 0例散发性 PD患者为研究对象 ,12 0名正常人作为对照。采用聚合酶链反应扩增所需 DNA片段 ,用限制性内切酶酶切技术测定所研究对象的基因型和等位基因。将 PD组按性别、起病年龄分组 ;正常人按性别分组 ,比较各组间基因型及等位基因频率的差异。结果 PD组与正常组 S/N16 7多态性等位基因频率差异无显著性 (χ2 =0 .75 ,P=0 .39) ;早发性 PD组 S/N16 7多态性等位基因频率显著高于正常对照组 (χ2 =5 .80 ,P=0 .0 16 ,OR=1.6 9) ;早发性 PD组较晚发性 PD组 S/N16 7多态性等位基因频率显著增高 (χ2 =10 .5 8,P=0 .0 0 1)。结论 parkin基因 S/N16 7多态性可能是早发性 PD的危险因素 ,其患 PD的风险性较正常组增高 1.6 9倍。
Objective To investigate the relationship between the polymorphism of parkin gene S / N16 7 and the genetic predisposition of sporadic Parkinson’s disease (PD). Methods One hundred and twenty cases of sporadic PD were studied, and 120 normal controls were used as controls. The desired DNA fragments were amplified by polymerase chain reaction and the genotypes and alleles of the studied subjects were determined by restriction endonuclease digestion. The PD group was grouped according to sex and age of onset. The normal subjects were grouped by gender and the differences of genotype and allele frequency among the groups were compared. Results There was no significant difference in allele frequencies of S / N16 7 polymorphism between PD group and normal group (χ2 = 0.75, P = 0.39). S / N167 polymorphism allele The frequencies of S / N167 polymorphism alleles in early-onset PD group were significantly higher than those in normal control group (χ2 = 5.80, P = 0.016, OR = 1.6 9) Increased (χ2 = 10.58, P = 0.010). Conclusion The polymorphism of parkin gene S / N167 may be a risk factor for early-onset PD, and the risk of PD is 1.6 9 times higher than that of normal control.