【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。更多还原

【Abstract】 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.更多还原