摘要
目的:探讨单胺氧化酶B(monoamineoxidaseB,MAOB)基因内含子2区(GT)n微卫星多态与散发性帕金森病发病风险间的关系。方法:采用扩增片段长度多态法(Amp-FLP)和微卫星荧光标记-半自动基因分型技术,对142例符合诊断标准的中国帕金森病患者和210例健康正常人,进行MAOB基因(GT)n微卫星多态分型,并通过相对风险率(relativerate,RR)与帕金森病发病风险作相关分析。结果:①病例-对照组间各等位基因频率分布差异有显著性意义(χ2=25.11,df=15,P=0.048)。其中168,170,184,186bp等位基因与帕金森病正相关,而172bp和182bp等位基因与帕金森病发病风险负相关。②按性别分层后,男性帕金森病患者中仅184bp等位基因频率明显增加(χ2=17.54,P=0.00003),182bp等位基因频率明显减少(χ2=9.10,P=0.026)。女性帕金森病患者中168,170,186,188bp等位基因频率明显增加(168bpχ2=9.55,P=0.002;170bpχ2=5.30,P=0.021;184bpχ2=24.76,P=0.000001;186bpχ2=4.35,P=0.037)。结论:MAOB基因内含子2中(GT)n多态与散发性帕金森病的发病风险有关。这种关联关系有性别差异。
AIM: To investigate the correlation of the microsatellite polymorphism in intron 2 of monoamine oxidase B(MAOB) gene(GT)n with the risk of sporadic Parkinson disease (PD) attack. METHODS: The (GT)n microsatellite polymorphism in the intron 2 of MAOB gene was genotyped with amplified fragment length polymorphism (Amp-FLP) and semiautomatic microsatellite fluorescent labeled genotyping technique in 210 healthy controls and 142 Chinese PD patients who were in accordance with the diagnostic criteria. Correlation between relative rate and PD was analyzed. RESULTS: ①There was significant difference in the distribution of allele frequencies between PD group and control group(χ2=25.11, df=15, P =0.048), and the 168, 170, 184 and 186 bp alleles were positively associated with PD, while the alleles of 172 and 182 bp were negatively associated with PD. ②In the male PD patients, only the frequency of 184 bp allele was obviously increased (χ2=17.54, P=0.000 03), while the allele of 182 bp was obviously decreased (χ2=9.10, P=0.026). In the female PD patients, the frequencies of 168, 170, 186 and 188 bp alleles were obviously increased(168 bp χ2=9.55, P=0.002; 170 bp χ2=5.30, P=0.021; 184 bp χ2=24.76, P=0.000 001; 186 bp χ2=4.35, P=0.037). CONCLUSION: The (GT)n polymorphism in the intron 2 of the MAOB gene is associated with PD, and this kind of association is different beween males and females.
出处
《中国临床康复》
CSCD
2004年第31期6879-6881,共3页
Chinese Journal of Clinical Rehabilitation
