改良聚合酶链反应法快速诊断常染色体显性遗传型多囊肾病  

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

作　　者：徐玉兰[1] 刘毅[1] 俞康[2] 吴建波[2] 

机构地区：[1]温州医学院附属第一医院肾内科,325000 [2]温州医学院附属第一医院血液科,325000

出　　处：《中华肾脏病杂志》2000年第4期227-229,共3页Chinese Journal of Nephrology

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。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.

关 键 词：常染色体显性遗传型多囊肾 聚合酶链反应 

分 类 号：R692.1[医药卫生—泌尿科学]