本文選題：阿爾茨海默病 + β-分泌酶　； 參考：《中風(fēng)與神經(jīng)疾病雜志》2014年08期

【摘要】：目的分析BACE2基因多態(tài)性位點rs1046210與中國漢族人群阿爾茨海默病發(fā)病的相關(guān)性。方法隨機(jī)選取20例樣本對BACE2第7外顯子區(qū)域進(jìn)行PCR擴(kuò)增和直接測序。篩查出中國北方漢族人群中存在的rs1046210變異位點。隨后用微測序的方法對348例阿爾茨海默病患者和294例正常對照者進(jìn)行多態(tài)性分型。結(jié)果應(yīng)用SPSS17.0統(tǒng)計軟件包進(jìn)行等位基因和基因型分布的比較,rs1046210C/T位點的基因型和等位基因頻率無統(tǒng)計學(xué)差異。根據(jù)是否攜帶ApoEε4等位基因進(jìn)行進(jìn)一步分層比較,并且應(yīng)用Logistic回歸分析平衡了年齡、性別和ApoE分型的影響后,該位點仍然不具有統(tǒng)計學(xué)意義。結(jié)論中國北方漢族人群BACE2第7外顯子區(qū)域多態(tài)性位點rs1046210C/T的等位基因和基因型差異與阿爾茨海默病無關(guān)。
[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.
【作者單位】： 首都醫(yī)科大學(xué)宣武醫(yī)院神經(jīng)內(nèi)科;
【分類號】：R749.16

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