目的：应用ＰＣＲ方法对常染色体显性遗传性多囊肾病（ＡＤＰＫＤ）家系进行症前基因诊断。方法：用ＰＣＲ扩增与ＰＫＤ１位点连锁的的高度多态性的微小卫星体ＤＮＡ（ＳＭ７，ＡＣ２．５，ＫＧ８，ＣＷ２）为遗传标记，对１０个ＡＤＰＫＤ家系的１０４个成员（包括２８个患者）找出染色体上与疾病连锁的单体型，进行连锁分析。结果：对９个无临床症状，且Ｂ超检查呈阴性结果的儿童做出了症前基因诊断。结论：能够应用ＰＣＲ方法对ＡＤＰ－ＫＤ家系成员快速、准确地做出基因诊断 Objective: To apply PCR method to diagnose pedigree of autosomal dominant polycystic kidney disease (ADPKD). Methods: The microsatellite DNA (SM7, AC2.5, KG8, CW2) with high degree of polymorphism linked to PKD1 locus was used as a genetic marker. The genetic polymorphism of 104 ADPKD pedigrees including 28 Patient) to identify the haplotypes linked to the disease on the chromosome for linkage analysis. RESULTS: Nine premorbid gene diagnoses were made in 9 children who did not have any clinical signs and had a negative B-test result. Conclusion: Gene PCR can be used to rapidly and accurately diagnose ADP-KD family members