| 利用与PKD1紧密连锁的微卫星多态性对黑龙江省汉族人群进行ADPKD的症前诊断 |
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| 引用本文： | 王禹霄,张承巍,薛继强,毕敏,李春媚.利用与PKD1紧密连锁的微卫星多态性对黑龙江省汉族人群进行ADPKD的症前诊断[J].生物磁学,2011(18):3449-3452. |
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| 作者姓名： | 王禹霄 张承巍 薛继强 毕敏 李春媚 |
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| 作者单位： | 哈尔滨医科大学附属第二医院,黑龙江哈尔滨150086 |
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| 摘 要： | 目的：利用与PKD1紧密连锁的微卫星的多态性对黑龙江省汉族人群常染色体显性遗传性多裳肾病（autosomal dominant polycystic diseaseADPKD）家系成员进行症状前诊断。方法：扩增PKD1基因内部（KG8）及基因两侧（AC2．5、CW4）共三个微卫星遗传标记，并采用聚丙烯酰胺凝胶电泳进行检测，银染，最后进行家系连锁分析。结果：家系1中一名男孩携带了PKD1突变基因，处于发病前期。结论：通过连锁分析ADPKD进行连锁分析能高效、快捷、准确地进行早期诊断.
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| 关 键 词： | 多囊肾病 常染色体显性遗传 连锁分析 基因诊断 微卫星 |
Presymptomatic Diagnosis of Autosomal Dominant Polycystic Kidney Disease in the Hans of Heilongjiang Province by Microsatellites Closely Linked to PKD 1 |
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| WANG Yu-xiao,ZHANG Cheng-wei,XUE Ji-qiang,BI Min,LI Chun-mei.Presymptomatic Diagnosis of Autosomal Dominant Polycystic Kidney Disease in the Hans of Heilongjiang Province by Microsatellites Closely Linked to PKD 1[J].Biomagnetism,2011(18):3449-3452. |
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| Authors: | WANG Yu-xiao ZHANG Cheng-wei XUE Ji-qiang BI Min LI Chun-mei |
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| Institution: | (The 2nd affiliated hospital of Haerbin Medical University, 150086, Harbin, China) |
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| Abstract: | Objective： To make the presymptomatic diagnose on the Hans in Heilongjiang province with the microsatellite DNA makers tightly linked with PKDlgene. Methods： The microsatellite DNA makers tightly linked to PKD1 gene were amplified by PCR. Polyacrylamidegel electrophoresis （PAGE）, silver staining and Gene linkage analysis were performed. Results： One individual from strip 1 was diagnosed as PKD1 mutation carrier who was in the pre-stage of cyst. Conclusion： Early diagnosis with united- application of multi-microsatellite DNA makers are active, quick and accurate after linked analysis |
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| Keywords: | Polycystic kidney disease Autosomal dominant Linkage analysis Gene diagnosis Microsatellite |
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