Shi J, Ma C, Lao H, Feng R, Guo Y, Mu N, Li Q, Tan Y, Wang D
Department of Geriatrics, Guangzhou Psychiatric Hospital, Guangzhou, Guangdong 510370 P.R.China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Aug;18(4):299-302.
To determine the effect of the pentanucleotide deletion polymorphism adjacent to a consensus splice site in intron 17 of alpha 2-macroglobulin(A2M) gene on the development of late-onset Alzheimer's disease (LOAD) in the Han Chinese in Guangzhou area.
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).
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-epsilon4 increased significantly (Z=3.32, P<0.01). ApoE-epsilon4 was associated with LOAD (RR=2.67, chi(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-epsilon4 allele.
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.
确定α2-巨球蛋白（A2M）基因第17内含子中一个与共有剪接位点相邻的五核苷酸缺失多态性对广州地区汉族人群晚发型阿尔茨海默病（LOAD）发病的影响。
采用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）技术检测LOAD患者（32例男性和65例女性）及年龄匹配的健康老年中国受试者（57例男性和54例女性）的A2M和载脂蛋白E基因型。
LOAD患者中A2M基因缺失等位基因频率为2.6%，对照组为2.7%。在LOAD患者中，载脂蛋白E-ε4频率显著增加（Z=3.32，P<0.01）。载脂蛋白E-ε4与LOAD相关（RR=2.67，χ2=10.71，P<0.01），而即使根据载脂蛋白E-ε4等位基因的存在对样本进行分层，A2M缺失多态性也与LOAD无关。
上述数据表明，在广州汉族人群中，没有证据表明A2M多态性与LOAD的发病有关。
