α2-巨球蛋白基因多态性与帕金森病的相关研究  

The association between both common polymorphisms of α2-macroglobulin gene and Parkinson disease

作　　者：郝怡鑫[1] 徐玲[2] 谢惠君[1] 吴奇涵[2] 汪晓华[2] 林大宇[2] 汤国梅[2] 任大明[2] 

机构地区：[1]第二军医大学附属长海医院神经内科,上海200433 [2]复旦大学生命科学学院遗传学研究所遗传工程国家重点实验室

出　　处：《中华神经科杂志》2002年第1期13-15,共3页Chinese Journal of Neurology

摘　　要：目的　探讨α2 巨球蛋白 (α2 macroglobulin ,A2M)基因外显子 18上 5个碱基的插入 /缺失(Ins/D)多态、外显子 2 4上缬氨酸 /异亮氨酸 (V/I)多态与帕金森病 (PD)发病风险间的关系。方法　采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)方法 ,在 6 6例PD患者、190名健康老人中观察A2M两种基因多态的分布 ,并通过比值比 (OR)对两种A2M多态与PD作相关分析。结果　 (1)PD患者中A2M外显子 2 4上缬氨酸等位基因的频率 (9 1%)明显高于正常老人 (3 9%,χ2 =5 19,P =0 0 2 3) ;而且PD患者V/I杂合子基因型的频率 (18 2 %)亦明显高于对照组 (6 8%,χ2 =7 15 ,P =0 0 0 8) ,并使患PD的危险性增加 2 97倍 (95 %可信区间为 1 38、6 5 8)。 (2 )A2M外显子 18上Ins等位基因在PD患者中的频率 (99 2 %)虽明显高于正常对照 (96 2 %,χ2 =3 99,P =0 0 46 ) ,但相关分析未揭示其与PD的相关性 (OR =5 18,95 %可信区间 0 83、32 15 ;χ2 =3 0 9,P >0 0 5 ) ;且基因型在两组间分布差异亦无显著意义 (χ2 =3 2 3,P >0 0 5 )。结论　A2M外显子 2 4上V等位基因可能是PD发病的风险因子 ,而外显子 18上Ins等位基因则可能与PD发病无明显相关。Objective To explore the relationship between polymorphisms of α2-macroglobulin(A2M) gene and Parkinson’s disease(PD) in Shanghai Hans.Methods The distribution of two common polymorphisms in A2M gene(a pentanucleotide insertion/ deletion in exon18,Ins/D; and a valine 1000 isoleucine in exon 24,V/I) were detected in 66 PD cases and 190 healthy controls, using polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) method.Results 1. The V allelic gene in A2M exon 24 of PD cases(9.1%) was significantly higher than the healthy controls(3.9%)(χ 2=5.19,P=0.023<0.05),so was the V/I genotype(χ 2=7.15,P=0.008<0.01);2.The Ins/D allelic polymorphism in A2M exon18 was significantly different between PD cases and controls(χ 2=3.99,P=0.046<0.05). However, the odds ratio didn’t suggest the association between Ins allelic gene and PD(χ 2=3.09,P>0.05).And no difference of genotype polymorphism distribution was shown between the two groups(χ 2=3.23,P>0.05).Conclusion The V allele in exon24 of A2M might be one of the susceptible factors in PD in Shanghai Hans.

关 键 词：帕金森病 α-巨球蛋白类 等位基因型 多态性 限制片段长度 

分 类 号：R742.5[医药卫生—神经病学与精神病学]