应用微小卫星体DNA多态性进行成人型多囊肾病的基因诊断  

Genl diagnosis of adult polycysitic kidly disease--usingpolymorphic microsatellite markers

作　　者：张宏[1] 朱世乐[1] 刘玉春[1] 白千帆[1] 王海燕[1] 

机构地区：[1]北京医科大学肾病研究所

出　　处：《中华医学杂志》1995年第8期482-485,共4页National Medical Journal of China

摘　　要：基因诊断是控制成人型多囊肾病（ＡＰＫＤ）的有效措施，作者利用ＳＭ＿７（一种在１６号染色体上与成人型多囊肾病基因紧密连锁的微小卫星体ＤＮＡ），根据其聚合酶链反应（ＰＣＲ）扩增片段长度多态性，结合聚丙烯酰胺凝胶电泳及Ａｇ￣＋染色方法，进行了１４个ＡＰＫＤ家系１０１名个体染色体ＤＮＡ的家系基因连锁分析，其中８个家系得到了明确结果，ＰＣＲ扩增片断条带清晰，ＡＰＫＤ家系中患者致病基因连锁关系自确。对结果不明确的家系分析了其可能原因。本方法是一种快速、简单，灵敏的非同位素ＡＰＫＤ基因诊断方法。ene diagnosis of adult polycystic kidney disease(APKD) is possible by genetic linkage analysis usinglinked restriction fragment length polymorphisms(RFLP) on both sides of the PKD1. This technique islaborious, expensive and sample-time-consuming.SM7 is a polymorphic microsatellite that tightly linkedwith the PKD1.We combined PCR with polyacry-lamide gel electrophoresis and method of gel Ag+ stain-ing to detect the allelus and genotype frequencies of themicrosatellite amplificated in unrelated Chinese popula-tion. The study of & APKD famihes with SM, demon-strated that the technique is quite simple, fast, sensi-tive and does not require the use of radioisotopes andultraviolet. It could provide a powerful method for thepresymptomatic and prenatal diagnosis of APKD.

关 键 词：肾疾病 多囊肾 基因诊断 聚合酶链反应 

分 类 号：R692.120.4[医药卫生—泌尿科学]