ArticleBMC nephrology2011
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Article in BMC nephrology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 25 citations in OpenAlex.
- The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review.Clinical kidney journal · 2025Article
- Article
- Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.Journal of nephrology · 2021Article
- Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.Molecular genetics & genomic medicine · 2019Article
- High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.BMC genetics · 2018Article
- System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.Scientific reports · 2016Article
- High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).Journal of clinical laboratory analysis · 2014Article
- Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.BMC medical genetics · 2014Article
- Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.Kidney international · 2014Article
- Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.Nature genetics · 2013Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal 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.
methodsWe 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.
resultsWe 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.
conclusionHRM 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.
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