摘要
目的 研究β-分泌酶2（BACE2） rs2252576位点基因多态性与中国北方汉族人群散发性阿尔茨海默病（SAD）发病的相关性.方法 随机选取10例SAD患者和10名健康对照者进行BACE2外显子区测序.筛查出第5外显子上游10bp存在一多态性位点rs2252576C/T,随后对348例SAD患者和294名健康对照者进行多态性分型及统计学分析.结果 SAD患者和健康对照组的BACE2基因rs2252576多态性位点基因型和等位基因频率差异无统计学意义（P＞0.05）.根据是否携带ApoEε4等位基因进行进一步分层比较后,该位点差异仍无统计学意义（P＞0.05）.应用Logistic回归分析平衡了年龄、性别和ApoE分型的影响后,差异仍无统计学意义（P＞0.05）.结论 中国北方汉族人群中BACE2基因rs2252576 C/T位点的基因多态性与SAD的发病可能无关.
Objective To study the association between β site APP-cleaving enzyme 2 gene exon polymorphism rs2252576 and sporadic Alzheimer disease in the Northern Chinese Han population.Methods We sequenced the exon region of β-site APP-cleaving enzyme 2 gene in 20 individuals randomly and found the polymorphism rs2252576 C/T in these regions.Following that,we sequenced the polymorphisms of 348 sporadic Alzheimer disease patients and 294 healthy controls in Chinese Han population.Using genetic statistical assay,we studied the association between the polymorphism and the risk for sporadic Alzheimer disease.Results In the study,we successfully sequenced the exon region around the polymorphism rs2252576.Definitive genotyping of these markers and apolipoprotein E （APOE） polymorphisms were surveyed using restriction enzyme digestion and direct sequencing in 348 sporadic Alzheimer disease patients and 294 controls.We failed to find any association between the polymorphism and sporadic Alzheimer disease even after statistical adjustment for age,gender and APOEε4 status.Conclusions Maybe there is no association between the polymorphism rs2252576 and sporadic Alzheimer disease was found in this subject population.
出处
《神经疾病与精神卫生》
2014年第3期270-273,共4页
Journal of Neuroscience and Mental Health
