【摘要】 目的:研究在家族性阿耳茨海默病(FAD)和无家族史健康人群中枢载脂蛋白E受体(SORL1)基因单核苷酸多态性(SNP)位点的筛选。方法:收集武汉地区具有家族史的阿耳茨海默病(AD)血样品41例,无家族史的健康人群50例,利用SNaPshot分型系统,针对SORL1基因5′端中8,9,10(rs668387,rs689021,rs641120)3个SNP位点及3′端19,23(rs2070045,rs3824968)两个SNP位点进行检测。结果:发现在FAD SORL1基因3′端的SNP23A等位基因(TA,AA)与无家族史健康人群相比有显著性差异(P=0.001,P<0.001)。结论:SORL1基因的SNP 23位点有可能是FAD标志性基因,进一步的研究有待于扩大样本量。更多还原

【Abstract】 Objective: To screen neuronal sortilin-related receptor SORL1 gene SNP between late-onset familial Alzheimer disease(FAD) and healthy population without familial diseases.Methods: The clinical data and blood samples from 41 samples of FAD patients in three generations were collected.The numbers of healthy controls are 50.Using SNaPshot genetying system,at the 5′ end and the 3′ end of SORL1 gene,SNPs 8,9,10(rs668387,rs689021,rs641120) and 19,23(rs2070045,rs3824968) respectively were analyzed.Results: At the 3′ end of SORL1 gene,SNP 23 A alleles(TA,AA) were significant different(P=0.001,P<0.001) between the two groups.Conclusion: SORL1 gene SNP 23 is a posible gene marker for FAD.Further study should be processed to increase the sample size.更多还原