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| 家族性阿耳茨海默病SORL1基因SNP位点的筛选 | |
| 引用本文： | 刘军,魏芸,代明,谭云,缪勇,邱小萍. 家族性阿耳茨海默病SORL1基因SNP位点的筛选[J]. 武汉大学学报(医学版), 2011, 32(6): 764-768 |
| 作者姓名： | 刘军 魏芸 代明 谭云 缪勇 邱小萍 |
| 作者单位： | 1. 武汉大学医学院病毒学研究所 湖北武汉430071 2. 武汉大学A3动物中心 湖北武汉 430071 3. 空军汉口赵家条干休所卫生所 湖北武汉430010 |
| 基金项目： | 国家自然科学基金资助项目(编号:301162253); 湖北省自然科学基金资助项目(编号:2009CDB423) |
| 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，rs689... |
| 关 键 词： | 家族性迟发型阿耳茨海默病 基因单核苷酸多态性 中枢载脂蛋白E受体 |
Association Between Single Nucleotide Polymorphism in SORL1 Gene and Familial Alzheimer Disease |
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| LIU Jun,WEI Yun,DAI Ming,TAN Yun,MIU Yong,QIU Xiaoping. Association Between Single Nucleotide Polymorphism in SORL1 Gene and Familial Alzheimer Disease[J]. Medical Journal of Wuhan University, 2011, 32(6): 764-768 | |
| Authors: | LIU Jun WEI Yun DAI Ming TAN Yun MIU Yong QIU Xiaoping |
| Affiliation: | LIU Jun1,WEI Yun1,DAI Ming2,TAN Yun1,MIU Yong3,QIU Xiaoping1 1Institute of Virology,2A3 Animal Center,School of Medicine,Wuhan University,Wuhan 430071,China 3Health Center,Zhaojiatiao Cadre Relaxation Club of Air Force,Wuhan 430010,China |
| 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. |
| Keywords: | Familial Alzheimer Disease Single Nucleotide Polymorphism SORL1 |
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