High Resolution Melt Analysis for Mutation Screening in PKD1 and PKD2

Overview

Journal BMC Nephrol

Publisher Biomed Central

Specialty Nephrology

Date 2011 Oct 20

PMID 22008521

Citations 9

Authors

Stanislas Bataille

Yvon Berland

Michel Fontes

Stephane Burtey

Affiliations

Soon will be listed here.

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder. It is characterized by focal development and progressive enlargement of renal cysts leading to end-stage renal disease. PKD1 and PKD2 have been implicated in ADPKD pathogenesis but genetic features and the size of PKD1 make genetic diagnosis tedious.

Methods: We aim to prove that high resolution melt analysis (HRM), a recent technique in molecular biology, can facilitate molecular diagnosis of ADPKD. We screened for mutations in PKD1 and PKD2 with HRM in 37 unrelated patients with ADPKD.

Results: We identified 440 sequence variants in the 37 patients. One hundred and thirty eight were different. We found 28 pathogenic mutations (25 in PKD1 and 3 in PKD2 ) within 28 different patients, which is a diagnosis rate of 75% consistent with literature mean direct sequencing diagnosis rate. We describe 52 new sequence variants in PKD1 and two in PKD2.

Conclusion: HRM analysis is a sensitive and specific method for molecular diagnosis of ADPKD. HRM analysis is also costless and time sparing. Thus, this method is efficient and might be used for mutation pre-screening in ADPKD genes.

Citing Articles

High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh.

Begum M, Mahtarin R, Islam M, Antora N, Sarker S, Sultana N PLoS One. 2024; 19(4):e0293570.

PMID: 38598477 PMC: 11006132. DOI: 10.1371/journal.pone.0293570.

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M, Del Vecchio Blanco F, Trepiccione F, Blasio G, Torella A, Melluso A J Nephrol. 2021; 34(6):1855-1874.

PMID: 33964006 PMC: 8610957. DOI: 10.1007/s40620-021-01048-4.

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T, Li Q, Shang S, Geng G, Xie Y, Cai G Mol Genet Genomic Med. 2019; 7(6):e720.

PMID: 31056860 PMC: 6565597. DOI: 10.1002/mgg3.720.

High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.

Islam M, Sarker S, Talukder S, Sarower Bhuyan G, Rahat A, Islam N BMC Genet. 2018; 19(1):58.

PMID: 30097005 PMC: 6086071. DOI: 10.1186/s12863-018-0664-1.

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Jin M, Xie Y, Chen Z, Liao Y, Li Z, Hu P Sci Rep. 2016; 6:35945.

PMID: 27782177 PMC: 5080601. DOI: 10.1038/srep35945.

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