SM7微卫星标记快速多态分析行Ⅰ型常染色体显性遗传多囊肾病的基因诊断

Gene diagnosis of autosomal dominant polycystic kidney disease Ⅰ by means of rapid genetic analysis of SM7 microsatellite marker

应用聚合酶链反应（ＰＣＲ）技术对４个Ⅰ型常染色体显性遗传多囊肾病（ＡＤＰＫＤⅠ）家系２４名个体的ＳＭ７（一种与ＡＤＰＫＤⅠ基因紧密连锁的微卫星标记）多态性进行连锁分析，其中３个家系得到了明确结果，ＰＣＲ扩增条带清晰，致病基因连锁关系明确。认为本法是一种快速、廉价、有效的ＡＤＰＫＤⅠ基因诊断方法。

Gene diagnosis is the only effective way for ADPKD Ⅰ family studies to make regenerative selection. Genetic linkage analysis of SM7 (a microsatellite marker tightly linked to the ADPKD Ⅰ locus) was carried out in four ADPKD Ⅰ families with 24 members by means of PCR technique. Definite results were gained in three families. DNA fragments amplified by PCR were clear on acrylamide gels. Genetic linkage with the disease locus was obvious . So, the procedure was believed to be a rapid、 inexpensive、 effective gene diagnosis method for ADPKD Ⅰ.