Genetic analyses for ADPKD using next-generation sequencer
Description: We performed genetic analyses of 111 ADPKD patients using next-generation sequencing (NGS). The mutations of 96 patients were detected. Additionally, a mutation in exon 1 of PKD1 was identified using Sanger sequencing and five deletions were identified using multiplex ligation-dependent probe amplification (MLPA). When combined, the total detection rate was 91.9%. This study indicated that comprehensive genetic analyses might be needed for the identification of mutations in ADPKD.
Amount: ¥4,810,000
Funding type: research
Funder scheme: Grant-in-Aid for Scientific Research (C)
Start date: 2015-04-01
End date: 2019-03-31
Investigator: Toshio Mochizuki
Institution: Tokyo Women's Medical University
Funded outputs count: 6
Funder award ID: 15K09279
OpenAlex ID: G5477749022