摘要：目的 检测微小卫星体SM7快速诊断常染色体显性遗传型多囊肾病(ADPKD)。方法应用改良二温式聚合酶链反应(PCR)法扩增与PKD1位点紧密连锁的微小卫星体SM7，并对10个家系进行基因连锁分析。结果在10个家系103个家庭成员中，29例先证者，9例无症状者通过基因连锁分析得到确诊。结论 改良二温式PCR法检测微小卫星体SM7可早期快速诊断ADPKD。

Rapid diagnosis of autosomal dominant polycystic kidney disease by detecting microsatellite SM7 with modified PCR amplification

XU Yulan ,LIU Yi ,YU Kang

(Department of Nephrology, Affiliated Hospital, Wenzhou Medical College, Wenzhou 325000, China)

Abstract：Objective To diagnose Chinese autosomal dominant polycystic kidney disease(ADPKD) rapidly by detecting microsatellite SM7.Methods Microsatellite SM7 was amplified by modified PCR in two temperatures.Gene linkage analysis was performed.Rusults DNA analysis predicted 9 asymptomatic members as PKD1 gene carriers.Conclusion The presymptomatic gene diagnosis could be done rapidly by detecting microsatellite SM7 with modified PCR amplification in two temperatures.

Keywords：Polymerase chain reaction;Polycystic kidney;Microsatellite参考文献：

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收稿日期：2000-07-06