Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing
S Rossetti, K Hopp, RA Sikkink… - Journal of the …, 2012 - journals.lww.com
Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant
polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1–32 as six
pseudogenes on chromosome 16, the high level of allelic heterogeneity, and the cost of
Sanger sequencing complicate mutation analysis, which can aid diagnostics of ADPKD. We
developed and validated a strategy to analyze both the PKD1 and PKD2 genes using next-
generation sequencing by pooling long-range PCR amplicons and multiplexing bar-coded …
polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1–32 as six
pseudogenes on chromosome 16, the high level of allelic heterogeneity, and the cost of
Sanger sequencing complicate mutation analysis, which can aid diagnostics of ADPKD. We
developed and validated a strategy to analyze both the PKD1 and PKD2 genes using next-
generation sequencing by pooling long-range PCR amplicons and multiplexing bar-coded …
