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.
出处
《中华医学杂志》
CAS
CSCD
北大核心
1995年第8期482-485,共4页
National Medical Journal of China
关键词
肾疾病
多囊肾
基因诊断
聚合酶链反应
Kidney, polycystic Gene diagno-sis Polyacrylamide gel electrophoresis
