N-乙酰基转移酶基因多态性与帕金森病相关性研究

目的　探讨N -乙酰基转移酶 (NAT2 )基因多态性与散发性帕金森病 (Parkinson’sdisease ,PD)的关系。方法　应用自动实时荧光Light-Cycler技术 ,分析 88例PD患者和 112例健康人NAT2 4个位点的基因多态性 ,比较PD患者与对照组间频率差异。结果　早发PD组NAT2 6A等位基因频率与对照组比较有显著性差异 (P <0 .0 5 ) ,使患PD的危险度提高了 2 .0 8倍 (P <0 .0 5 ) ,NAT2 5A和NAT2 7A/B等位基因频率与对照组比较无显著性差异 (P >0 .0 5 ) ;晚发PD组NAT2 4个多态位点各等位基因频率与对照组比较无显著性差异 (P >0 .0 5 ) ;未检测到NAT2 14A等位基因。结论　NAT2 6A等位基因可能主要与早发PD的易感性相关 ,并参与了神经毒素的解毒。

Relationship between genetic polymorphisms of N - acetyltransferase and Parkinson''s Disease

Objective: To study the possible relationship between N-acetyltransferase 2 (NAT2) genetic polymorphisms and sporadic Parkinson's disease. Method 88 cases of Parkinson's disease and 112 healthy controls'NAT2 genetic polymorphisms of four points were analysed with the method of Real?time Fluorescence Light?Cycler. The difference of frequency between the patients with PD and the controls were compared. Results The significant differences were found between the controls and early-onset PD NAT2 *6A allele frequency(P<0.05).This results in 2.08times higher(P<0.05)occurrence of PD, No significant differences were found between the controls and early-onset PD NAT2*5A and NAT2 *7A/B alleles frequency(P>0.05); No significant differences were found between the controls and late?onset PD NAT2 four polymorphisms alleles frequency (P>0.05). NAT2 *14A allele was not detected. Conclusion NAT2*6A allele might be a genetic susceptible factor for early?onset PD, and join the detoxification of neurotoxins.