Alzheimer病患者的β/A_4蛋白基因突变与载脂蛋白E ε_4等位基因关系的研究

A study of the relation between βA_4 gene mutation and apolipoprotein E allele ε_4 in Alzheimer's disease

为探讨 Alzheimer 病(AD)患者β/A_4蛋白基因突变与载脂蛋白E(apoE)ε_4等位基因的关系,采用限制性片段长度多态性(RFLP)方法对淀粉样前体蛋白(APP)基因第717号密码子(APP_(717))的突变及 apoE 的基因型进行了检测。在80例散发性 AD 患者和30名正常老年人及20例多发性梗塞性痴呆(MID)患者中,没有发现 APP 基因的突变,也未发现 APP 基因突变与 apoE ε_4等位基因相关。这提示 APP 基因突变在 AD 病因学中并不具备普遍意义。

The purpose of this article was to explore and study the relation between the β/A_4,gene mutation and the apolipoprotein E ε_4 allele in Alzheimer's disease (AD).80 cases with sporadic Alzheimer's disease (AD),20 cases with multi-infarctive dementia (MID) and 30 age-matched normal controls were identified.The mutation of amyloid precursor protein (APP) gene was detected as well as the association between the APP gene mutation and apolipoprotein E (apoE) allele ε_4 was studied with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Neither the mutation of APP gene nor the association between APP gene and apoE ε_4 was found.It suggested that the mutation of APP gene might be a minor occasional cause to early-onset fa- milial AD (FAD).For most AD cases,the mutation did not exist,especially in sporadic AD and late- onset AD.