BACE2多态性位点rs1046210与阿尔茨海默病相关性的研究

发布时间：2018-05-10 07:51

本文选题：阿尔茨海默病 + β-分泌酶　；参考：《中风与神经疾病杂志》2014年08期

【摘要】：目的分析BACE2基因多态性位点rs1046210与中国汉族人群阿尔茨海默病发病的相关性。方法随机选取20例样本对BACE2第7外显子区域进行PCR扩增和直接测序。筛查出中国北方汉族人群中存在的rs1046210变异位点。随后用微测序的方法对348例阿尔茨海默病患者和294例正常对照者进行多态性分型。结果应用SPSS17.0统计软件包进行等位基因和基因型分布的比较,rs1046210C/T位点的基因型和等位基因频率无统计学差异。根据是否携带ApoEε4等位基因进行进一步分层比较,并且应用Logistic回归分析平衡了年龄、性别和ApoE分型的影响后,该位点仍然不具有统计学意义。结论中国北方汉族人群BACE2第7外显子区域多态性位点rs1046210C/T的等位基因和基因型差异与阿尔茨海默病无关。
[Abstract]:Objective to analyze the association between BACE2 gene polymorphism rs1046210 and Alzheimer's disease in Chinese Han population. Methods Twenty samples were randomly selected to amplify exon 7 of BACE2 by PCR amplification and direct sequencing. The rs1046210 mutation sites were screened in the Han population of northern China. Polymorphism typing was performed in 348 patients with Alzheimer's disease and 294 normal controls by microsequencing. Results there was no significant difference in allele and allelic frequency of rs1046210C / T locus between alleles and genotypes by SPSS17.0 software package. Further stratification comparison was carried out according to whether the allele of ApoE 蔚 4 was carried or not, and the influence of age, sex and ApoE typing was balanced by Logistic regression analysis, the locus was still not statistically significant. Conclusion the alleles and genotypes of rs1046210C/T at exon 7 of BACE2 are not related to Alzheimer's disease.
【作者单位】：首都医科大学宣武医院神经内科;
【分类号】：R749.16

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