摘要
目的 比较α2 巨球蛋白 (α2 macroglobulin ,A2M)基因 18号外显子 5′端 5个碱基的插入/缺失 (Ins/D)多态、2 4号外显子上缬氨酸 /异亮氨酸 (I 10 0 0V)多态 ,在帕金森病 (PD)及阿尔茨海默病 (AD)患者中的分布情况。方法 采用聚合酶链式反应 限制性片断长度多态性 (PCR RFLP)方法 ,在 6 6例PD患者、115例AD患者中观察A2M基因两种多态的分布 ,并通过比值比 (OR)对A2M基因两种多态与PD、AD作相关分析。结果 A2M基因I 10 0 0V多态基因型及等位基因分布 ,在PD、AD组与健康对照人群间的差异有显著意义 (基因型PD :χ2 =7 4 0 9,df =1,P =0 0 0 6 5 ,AD :χ2 =6 6 2 5 ,df =1,P =0 0 0 9;等位基因PD :χ2 =5 183,P =0 0 2 3,AD :χ2 =4 2 12 ,P =0 0 4 0 ) ,其中Ⅳ杂合基因型与PD及AD均呈显著的正关联 (PD :OR =3 0 3,95 %CI:1 38～ 6 5 8;AD :OR =2 5 2 ,95 %CI :0 99～ 5 0 9) ;但PD、AD两组间差异无显著意义 (P >0 0 5 )。各组间A2MIns/D多态基因型及等位基因的分布亦无明显差异。结论 A2M基因 2 4号外显子I 10 0 0V多态可能不仅是AD的疾病易患因子 ,也是PD的疾病易患因子。
Objective To compare the distributions of A2M gene polymorphism in patients with PD and AD in Chinese Han population. Methods The two A2M gene polymorphisms (a 5 bp insertion/deletion in 5′-end of exon 18, Ins/D; and a isoleucine 1000 valine in exon 24, I 1000 V) in 66 PD, 115 AD and 190 healthy controls were detected, using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. Results Compared with the control, the genotypic and allelic distributions of the A2M I 1000 V, but not the Ins/D polymorphism, were significantly different in patients with PD and AD (genotype: PD: χ 2=7.409, df =1, P =0.006 5, AD: χ 2=6.625, df =1, P =0.009; allele: PD: χ 2=5.183, P =0.023, AD: χ 2=4.212, P =0.040). The Ⅳ genotype was associated with PD and AD (PD: OR =3.03, 95% CI : 1.38-6.58; AD: OR =2.52, 95% CI : 0.99-5.09). But there was no difference shown between PD and AD cases ( P >0.05). Conclusion In our samples, this two polymorphisms in A2M might play similar roles in the susceptibilities to PD and AD.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2004年第1期45-47,共3页
Chinese Journal of Neurology
