| 105例汉族正常人PKD2基因单核苷酸多态性研究 |
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| 引用本文： | 李雪静,马云霞,张全斌,魏玫都,曾皓琛,郭珍平,王鹏飞,周永安.105例汉族正常人PKD2基因单核苷酸多态性研究[J].中国优生与遗传杂志,2011(12):21-22,27. |
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| 作者姓名： | 李雪静 马云霞 张全斌 魏玫都 曾皓琛 郭珍平 王鹏飞 周永安 |
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| 作者单位： | 山西医科大学;太原市中心医院实验中心室;太原市中心医院肾内科; |
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| 摘 要： | 目的研究105例太原市中心医院体检正常汉族志愿者常染色体显性遗传多囊肾病PKD2基因单核苷酸多态性（SNP）分布情况。方法 NCBI检索已报道的PKD2所有外显子SNP分布情况;通过DNAMAN软件分析,选择存在限制性酶切位点的6个SNP;PCR扩增酶切位点所在的外显子、酶切,酶切异常者进行测序。结果 105例太原市健康人群共检测出1个SNP,位于外显子6的1420位,A/G型基因频率为11.43%,A/A型基因频率为88.57%。其余SNP位点均未检出。结论太原市汉族PKD2中的SNP特点及分布与国外报道有所差异。
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| 关 键 词： | 常染色体显性遗传多囊肾病 PKD2 单核苷酸多态性 限制性内切酶 |
Research of the single nueleotide polymorphisms of PKD2 in 105 healthy volunteers |
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| LI Xue-jing,Ma Yun-xia,ZHANG Quan-bin,WEI Mei-du,ZENG Hao-chen,GUO Zhen-ping,WANG Peng-fei,ZHOU Yong-an..Research of the single nueleotide polymorphisms of PKD2 in 105 healthy volunteers[J].Chinese Journal of Birth Health & Heredity,2011(12):21-22,27. |
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| Authors: | LI Xue-jing Ma Yun-xia ZHANG Quan-bin WEI Mei-du ZENG Hao-chen GUO Zhen-ping WANG Peng-fei ZHOU Yong-an |
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| Institution: | LI Xue-jing1,Ma Yun-xia2,ZHANG Quan-bin2,WEI Mei-du3,ZENG Hao-chen3,GUO Zhen-ping2,WANG Peng-fei2,ZHOU Yong-an2.(1.Graduate of Clinical Laboratory Diagnostics of Shanxi Medical University,Taiyuan 030001 China,2.Central laboratory of Taiyuan City Central Hospital,Taiyuan 030009,China,3.Department of Nephrology,Taiyuan City Central Hospital,China) |
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| Abstract: | Objectives:Detect single nucleotide polymorphisms of polycystic kidney disease gene 2 in 105 healthy voluntears in Hans in Taiyuan city central hospital,to analysis the SNP distribution of PKD2 in the region.Methods:Relationed SNPs were searched using international NCBI data and analyzed by DNAMEN to find out the restriction digestion location.The PCR produets were analysized by restriction digestion and the products showing abnormal fragments were sequenced.Results:1 SNP was detected,which is 1420A/G of ex... |
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| Keywords: | ADPKD PKD2 SNP Restriction enzymes |
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