Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.

Abstract:

BACKGROUND:Autosomal dominant polycystic kidney disease (ADPKD), one of the most common hereditary kidney diseases, causes gradual growth of cysts in the kidneys, leading to renal failure. Owing to the advanced technology of next-generation sequencing (NGS), genetic analyses of the causative genes PKD1 and PKD2 have been improved. METHODS:We performed genetic analyses of 111 Japanese ADPKD patients using hybridization-based NGS and long-range (LR)-PCR-based NGS. Additionally, genetic analyses in exon 1 of PKD1 using Sanger sequencing because of an extremely low coverage of NGS and those using multiplex ligation-dependent probe amplification (MLPA) were performed. RESULTS:The detection rate using NGS for 111 patients was 86.5%. One mutation in exon 1 of PKD1 and five deletions detected by MLPA were identified. When combined, the total detection rate was 91.9%. CONCLUSION:Although NGS is useful, we propose the addition of Sanger sequencing for exon 1 of PKD1 and MLPA as indispensable for identifying mutations not detected by NGS.

journal_name

Clin Exp Nephrol

authors

Mochizuki T,Teraoka A,Akagawa H,Makabe S,Akihisa T,Sato M,Kataoka H,Mitobe M,Furukawa T,Tsuchiya K,Nitta K

doi

10.1007/s10157-019-01736-3

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

1022-1030

issue

8

eissn

1342-1751

issn

1437-7799

pii

10.1007/s10157-019-01736-3

journal_volume

23

pub_type

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