α_1-抗糜蛋白酶及α_2-巨球蛋白基因多态性与帕金森病的相关研究  

Association of gene polymorphisms of α_1-antichymotrypsin and α_2- macroglobulin with Parkinson's disease in Han Nationality Chinese at different ages in Shanghai

作　　者：郝怡鑫[1] 郑惠民[2] 谢惠君[2] 徐凌[3] 吴奇涵[3] 林大宇[3] 汤国梅[3] 任大明[3] 沈茜[1] 

机构地区：[1]第二军医大学附属长海医院实验诊断科,上海市200433 [2]第二军医大学附属长海医院神经内科,上海市200433 [3]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：《中华老年医学杂志》2003年第2期83-86,共4页Chinese Journal of Geriatrics

摘　　要：目的　探讨不同年龄条件下的α1 抗糜蛋白酶 (AACT)信号肽基因多态、α2 巨球蛋白(A2M )基因外显子 2 4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　采用聚合酶链式反应限制性片断长度多态性方法 (PCR RFLP) ,在 66例PD患者、12 0例健康对照者中观察AACT信号肽基因多态、A2M基因V/I多态的分布 ,并通过比值比 (OR)对两种多态与PD作相关分析。　结果　PD患者与健康老人间不存在AACT A/T等位基因多态分布的差异 (P >0 0 5 ) ,但PD患者AACT A/A纯合子基因型与PD正关联 (OR =2 44 ,P <0 0 5 ) ,而且这种正相关主要存在于 <60岁的PD患者中 (OR =12 5 7,P <0 0 5 ) ;PD患者中A2M I等位基因的频率明显低于对照组(OR =0 3 9,P <0 0 5 ) ,且PD患者A2M I/I纯合子基因型与PD负关联 (OR =0 3 2 ,P <0 0 5 ) ,这种负关联主要存在于≥ 60岁的PD患者中 (OR =0 3 1,P <0 0 5 )。　结论　AACT A/A纯合子基因型可能是PD发病的风险因子 ,而A2M I等位基因则有可能是PD发病的保护因子。Objective To explore the relationship of the gene polymorphisms of α 1 antichymotrypsin(AACT) and α 2 macroglobulin(A2M) genes with Parkinson's disease(PD) in Han Nationality at different ages in Shanghai Methods The distribution of AACT and A2M gene polymorphisms were detected in 66 PD patients and 120 healthy controls using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method Association analyses were performed using Odds ratio( OR ) and χ 2 test Results No difference in distribution of AACT A/T allele polymorphism was found between PD patients and healthy controls( P >0 05). But AACT A/A genotype was associated with PD, especially in the group of <60 years old ( OR =2 44, P <0 05; <60 years old: OR =12 57, P <0 05). The I allelic frequencies in A2M exon 24 gene of PD patients was significantly lower than that of the healthy controls ( OR =0 39, P <0 05), so was the I/I genotype especially in the group ≥60 years old ( OR =0 32, P <0 05; ≥60 years old: OR =0 31, P <0 05). Conclusions The AACT A/A genotype might be a susceptible factor for PD, but the I allele in exon 24 of A2M might be one of the protective factors for PD in Han Nationality in Shanghai.

关 键 词：帕金森病 Α1-抗糜蛋白酶 α巨球蛋白类 基因表达 

分 类 号：R742.5[医药卫生—神经病学与精神病学]