【作者】 骆小梅；

【导师】 周晓辉；

【作者基本信息】 新疆医科大学 ， 老年医学， 2008， 硕士

【摘要】 目的:探讨新疆维、汉两民族阿尔茨海默病(AD)患者载脂蛋白E(ApoE)基因型及等位基因频率的分布情况,了解民族间是否存在差异。方法:研究对象均来自于2004年10月至2007年5月对新疆地区维、汉两民族≥50岁常住居民8284例所进行的AD流行病学调查,应用聚合酶链反应-限制性片断长度多态性分析方法(PCR-RFLP),测定调查中诊断为很可能是AD的患者209例(汉族98例、维吾尔族111例)及正常对照220例(汉族103例、维吾尔族117例)ApoE各基因型和等位基因频率。结果:(1)ApoEε3/4基因型在AD组为28.23%,明显高于对照组的13.18%,差异有统计学意义(P<0.05);而ApoEε3/3基因型在对照组为68.18%,高于AD组的57.89%,差异亦有统计学意义(P<0.05)。ApoEε4等位基因在AD组中出现的频率明显高于对照组,分别为14.83%和7.95%,差异有统计学意义(P<0.05)。(2)在维、汉两个民族中ApoEε3/4基因型分布和ApoEε4等位基因频率AD组和本民族对照间,均为AD组高于对照组,其差异有统计学意义(P<0.05)。但在维、汉不同民族AD患者间未见上述基因分布的差异(P>0.05)。(3)在维、汉两民族分性别比较,维吾尔族男性ApoEε3/4基因型分布在AD组和对照组存在差异(P<0.05),而ApoEε4等位基因频率分别在维吾尔族女性和汉族女性的AD组和对照组中均存在差异(P<0.05)。结论:ApoEε4等位基因是AD的危险因素,尤在维、汉两民族女性AD患者的发病中起重要作用;ApoE基因型及等位基因频率在维、汉两民族间的分布无明显差异。更多还原

【Abstract】 Objective: To study the distribution of Apolipoprotein E(ApoE) genetypes and allele frequency in Xinjiang Uygurs and Hans with Alzheimer’s disease(AD) ,and realize if there are difference between Uygurs and Hans. Methods: On the basis of Xinjiang Uygurs and Hans AD epidemiological survey including 8284 people≥50 years old , selected 209 cases of AD patients and 220 healthy elderly subjects for the case - control study. Using polymerase chain reaction- restriction fragment length polymorphism(PCR-RFLP), to determine the Apolipoprotein E genetypes and allele frequency in 98 cases of Hans people and 111 cases of Uygurs AD patients , and 103 cases of Hans people and 117 cases of Uygurs normal control Results: (1) The ApoEε3/4 genetype in AD group is 28.23%, it’s higher than normal control’s 13.18%(P<0.05). The ApoEε3/3 genetype in normal control is 68.18%, which higher than AD group’s 57.89%(P<0.05). ApoEε4 allele frequency is higher in AD group than normal control , such as 14.83% and 7.95% (P<0.05). (2) Between Uygurs and Hans, ApoEε3/4 genetype and ApoEε4 allele frequency in AD group and normal control have also difference, AD group are higher than normal control (P<0.05). But there are not difference of gene distribution in Uygurs and Hans in AD patients(P>0.05). (3) Comparied with Uygurs and Hans different sexual, the ApoEε3/4 genetype distribution of Uygurs males have significance differences in AD and control group(P<0.05), and ApoEε4 allele frequency in AD and control group have also significance differences between Uygurs women and Hans women(P<0.05). Conclusion: ApoEε4 allele frequency is a risk factor of AD, especially in Uygurs and Hans female AD patients. The distribution of ApoE genetypes and allele frequency have no difference between Uygurs and Hans .更多还原