ABSTRACT
Objective To investigate the mutation types of polycystic kidney disease 1 gene (PKD1) and polycystic kidney disease 2 gene (PKD2) in Chinese patients with autosomal dominant polycystic kidney disease (ADPKD). Methods The mutations of PKD1 and PKD2 in 129 inherited ADPKD families were analyzed by long PCR and high-throughput sequencing. The positive mutation was verified by Sanger sequencing method. Results A total of 118 mutation sites of PKD1 or PKD2 in 116 inherited ADPKD families were detected from 129 families, with the detection rate being 89.9% (116/129). The mutation rates of PKD1 and PKD2 were 92.2% (107/116) and 8.6% (10/116), respectively. Of the 118 mutation sites, 80 (67.8%) were new mutations and 38 (32.2%) were known mutations; and 109 mutation sites were located in PKD1 (33 known mutations and 76 new mutations) and 9 in PKD2 (5 known mutations and 4 new mutations). Conclusion The newly discovered PKD1 and PKD2 mutations may contribute to early diagnosis and prognosis prediction of ADPKD patients, and may provide basic genetic information for clinical intervention.