【摘要】 目的：用ＰＣＲ方法对中国的常染色体显性遗传多囊肾病（ＡＤＰＫＤ）家系进行基因诊断。方法：提取基因组ＤＮＡ，用ＰＣＲ方法扩增与ＰＫＤ１位点连锁的高度多态性的微小卫星体ＤＮＡ（ＳＭ７，ＡＣ２．５，ＳＭ６，ＫＧ８）为遗传标记，进行家系分析。对２２个ＡＤＰＫＤ家系的１５６个成员（包括６８个患者）找出染色体上与疾病连锁的单体型，进行了连锁分析。结果：２１个被测家系提供了基因诊断信息；另一个家系显示重组或不连锁。结论：能够采用ＰＣＲ方法对中国的ＡＤＰＫＤ家系进行基因诊断。更多还原

【Abstract】 Objective:Gene diagaosis of Chinese families with autosomal dominant polycystic kidney dis-ease,Methods:Genomic DNA were extracted.Highly polymorphic microsatellite markers(SM7, AC 2.5,SM6,KG8)linked to the PKD1 were amplified using PCR.Twenty-two Chinese ADPKD families(156 members,including 68 affected were analysed).Results:Twenty-one examined families were fully informative for linkage analysis.The other one family showed a recombination event or unlinked evi-dence. Conclusion:Gene diagnosis could be done in Chinese families with ADPKD using PCR method.更多还原