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成人多囊肾病的基因诊断——应用多态性微卫星标记

[Gene diagnosis of adult polycysitic kidney disease--using polymorphic microsatellite markers].

作者信息

Zhang H, Zhu S, Liu Y

机构信息

Institute of Nephrology, Beijing Medical University.

出版信息

Zhonghua Yi Xue Za Zhi. 1995 Aug;75(8):482-5, 511.

PMID:7584572
Abstract

Gene diagnosis of adult polycystic kidney disease (APKD) is possible by genetic linkage analysis using linked restriction fragment length polymorphisms (RFLP) on both sides of the PKD1. This technique is laborious, expensive and sample- time- consuming. SM7 is a polymorphic microsatellite that tightly linked with the PKD1. We combined PCR with polyacrylamide gel electrophoresis and method of gel Ag+ staining to detect the allelus and genotype frequencies of the microsatellite amplificated in unrelated Chinese population. The study of 8 APKD families with SM7 demonstrated that the technique is quite simple, fast, sensitive and does not require the use of radioisotopes and ultraviolet. It could provide a powerful method for the presymptomatic and prenatal diagnosis of APKD.

摘要

利用多囊肾病1(PKD1)两侧的连锁限制性片段长度多态性(RFLP)进行基因连锁分析,可实现成人多囊肾病(APKD)的基因诊断。该技术费力、昂贵且耗时。SM7是一种与PKD1紧密连锁的多态性微卫星。我们将聚合酶链反应(PCR)与聚丙烯酰胺凝胶电泳以及凝胶银染法相结合,以检测在无关中国人群中扩增的微卫星的等位基因和基因型频率。对8个APKD家系进行的SM7研究表明,该技术非常简单、快速、灵敏,且无需使用放射性同位素和紫外线。它可为APKD的症状前诊断和产前诊断提供一种有力的方法。

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