| 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].,2011,11(18):3449-3452 |
| 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 |
| Presymptomatic Diagnosis of Autosomal Dominant Polycystic KidneyDisease in the Hans of Heilongjiang Province byMicrosatellites CloselyLinked to PKD1 |
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| DOI： |
| 中文关键词: 多囊肾病 常染色体显性遗传 连锁分析 基因诊断 微卫星 |
| 英文关键词: Polycystic kidney disease Autosomal dominant Linkage analysis Gene diagnosis Microsatellite |
| 基金项目: |
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| 中文摘要: |
| 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囊肾病(autosomal dominant
polycystic disease ADPKD)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。 |
| 英文摘要: |
| Objective: To make the presymptomatic diagnose on the Hans in Heilongjiang province with the microsatellite DNA
makers tightly linked with PKD1gene. 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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