Research article
High Resolution Melt analysis for mutation screening in PKD1 and PKD2
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* Corresponding author: Stéphane Burtey stephane.burtey@univmed.fr
1 EA 4263 Thérapie des maladies génétiques, Faculté de médecine, Université de la méditerranée, Boulevard Jean Moulin 13005 Marseille, France
2 Centre de néphrologie et transplantation rénale, Hôpital de la Conception, 147 Boulevard Baille 13005 Marseille, France
BMC Nephrology 2011, 12:57 doi:10.1186/1471-2369-12-57
Published: 18 October 2011Abstract
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.