High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it>
<p>Abstract</p> <p>Background</p> <p>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. <it>PKD...
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doaj-3e12d92caed24d17bc47d2fe4b9230ec2020-11-24T21:39:30ZengBMCBMC Nephrology1471-23692011-10-011215710.1186/1471-2369-12-57High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it>Fontes MichelBerland YvonBataille StanislasBurtey Stéphane<p>Abstract</p> <p>Background</p> <p>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. <it>PKD1 </it>and <it>PKD2 </it>have been implicated in ADPKD pathogenesis but genetic features and the size of <it>PKD1 </it>make genetic diagnosis tedious.</p> <p>Methods</p> <p>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 <it>PKD1 </it>and <it>PKD2 </it>with HRM in 37 unrelated patients with ADPKD.</p> <p>Results</p> <p>We identified 440 sequence variants in the 37 patients. One hundred and thirty eight were different. We found 28 pathogenic mutations (25 in <it>PKD1 </it>and 3 in <it>PKD2 </it>) 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 <it>PKD1 </it>and two in <it>PKD2</it>.</p> <p>Conclusion</p> <p>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.</p> http://www.biomedcentral.com/1471-2369/12/57 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Fontes Michel Berland Yvon Bataille Stanislas Burtey Stéphane |
spellingShingle |
Fontes Michel Berland Yvon Bataille Stanislas Burtey Stéphane High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it> BMC Nephrology |
author_facet |
Fontes Michel Berland Yvon Bataille Stanislas Burtey Stéphane |
author_sort |
Fontes Michel |
title |
High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it> |
title_short |
High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it> |
title_full |
High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it> |
title_fullStr |
High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it> |
title_full_unstemmed |
High Resolution Melt analysis for mutation screening in <it>PKD1 </it>and <it>PKD2 </it> |
title_sort |
high resolution melt analysis for mutation screening in <it>pkd1 </it>and <it>pkd2 </it> |
publisher |
BMC |
series |
BMC Nephrology |
issn |
1471-2369 |
publishDate |
2011-10-01 |
description |
<p>Abstract</p> <p>Background</p> <p>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. <it>PKD1 </it>and <it>PKD2 </it>have been implicated in ADPKD pathogenesis but genetic features and the size of <it>PKD1 </it>make genetic diagnosis tedious.</p> <p>Methods</p> <p>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 <it>PKD1 </it>and <it>PKD2 </it>with HRM in 37 unrelated patients with ADPKD.</p> <p>Results</p> <p>We identified 440 sequence variants in the 37 patients. One hundred and thirty eight were different. We found 28 pathogenic mutations (25 in <it>PKD1 </it>and 3 in <it>PKD2 </it>) 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 <it>PKD1 </it>and two in <it>PKD2</it>.</p> <p>Conclusion</p> <p>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.</p> |
url |
http://www.biomedcentral.com/1471-2369/12/57 |
work_keys_str_mv |
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