α2-巨球蛋白基因多态性与A lzheimer病的关联研究  

No evidence for association between the α2-macroglobulin polymorphism and Alzheimer's disese in the Han Chinese

作　　者：施佳军[1] 马崔[1] 老洪尧[1] 冯容妹[1] 郭扬波[1] 沐楠[1] 李强 谭燕[1] 王达平[1] 

机构地区：[1]广州市精神病医院老年科,510370

出　　处：《中华医学遗传学杂志》2001年第4期299-302,共4页Chinese Journal of Medical Genetics

基　　金：广东省医学科学技术研究基金 (A1 99951 9);广州市重点科技攻关计划基金 (99- Z- 1 0 2 - 0 3)&&

摘　　要：目的　观察 α2 -巨球蛋白基因 (α2 - macroglobulin,A2 M)内含子 17一种五核苷酸缺失突变在广州地区汉族老年人中的分布 ,探讨其与晚发 Alzheimer病 (AD)的相关性。方法　以 97例晚发 AD患者和 111名健康老年人为对照进行病例 -对照研究。用聚合酶链反应 -限制性片段长度多态性方法分析 A2 M缺失 /插入多态性和载脂蛋白 E(apolipoprotein E,apo E)基因多态性。结果　 (1) A2 M基因缺失突变在晚发 AD患者中的频率为 2 .6 % ,在正常老年人中的频率为 2 .7% ,在所有受试者中未检测到 A2 M突变纯合体 ,晚发 AD患者和健康老年人之间不存在 A2 M等位基因和基因型分布的差异 ,A2 M基因多态性与晚发AD无关联。(2 )晚发 AD患者中 apo E等位基因ε4频率显著升高 (Z=3.32 ,P<0 .0 1)。晚发 AD与ε3/ε4基因型正关联 (RR=2 .6 2 ,χ2 =6 .89,P<0 .0 1) ,和等位基因ε4正关联 (RR=2 .6 7,χ2 =10 .71,P<0 .0 1)。 (3)晚发 AD无论是否伴有 apo E-ε4均与 A2 M不存在相关性。结论　广州汉族人群中 A2 M基因缺失突变多态性与晚发Objective To determine the effect of the pentanucleotide deletion polymorphism adjacent to a consensus splice site in intron 17 of α2 macroglobulin(A2M) gene on the development of late onset Alzheimer's disease (LOAD) in the Han Chinese in Guangzhou area. Methods A2M and apolipoprotein E genotypes were examined by polymerase chain reaction(PCR) and restriction fragment length polymorphism (RFLP) techniques in the patients(32 men and 65 women)with LOAD and age matched healthy elderly Chinese subjects (57 men and 54 women). Results The A2M gene deletion allele frequency was 2.6% in the cases with LOAD and 2.7% in the controls. In the LOAD cases, the frequency of apoE ε4 increased significantly (Z=3 32, P<0 01) . apoE ε4 was associated with LOAD (RR=2.67, χ 2=10.71, P<0 01) while the A2M deletion polymorphism was not associated with LOAD even the samples were stratified according to the presence of the apoE ε4 allele. Conclusion The above data demonstrate that there is no evidence for the association of A2M polymorphism with the development of LOAD in the Han Chinese population in Gaungzhou.

关 键 词：Α2-巨球蛋白 载脂蛋白E ALZHEIMER病 聚合酶链反应 

分 类 号：R749.161[医药卫生—神经病学与精神病学]