{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:49:28Z","timestamp":1791139768762,"version":"4.1.0"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,10,18]],"date-time":"2011-10-18T00:00:00Z","timestamp":1318896000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats: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. <jats:italic>PKD1<\/jats:italic> and <jats:italic>PKD2<\/jats:italic> have been implicated in ADPKD pathogenesis but genetic features and the size of <jats:italic>PKD1<\/jats:italic> make genetic diagnosis tedious.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats: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 <jats:italic>PKD1<\/jats:italic> and <jats:italic>PKD2<\/jats:italic> with HRM in 37 unrelated patients with ADPKD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We identified 440 sequence variants in the 37 patients. One hundred and thirty eight were different. We found 28 pathogenic mutations (25 in <jats:italic>PKD1<\/jats:italic> and 3 in <jats:italic>PKD2<\/jats:italic> ) 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 <jats:italic>PKD1<\/jats:italic> and two in <jats:italic>PKD2<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats: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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2369-12-57","type":"journal-article","created":{"date-parts":[[2011,11,2]],"date-time":"2011-11-02T19:51:45Z","timestamp":1320263505000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["High Resolution Melt analysis for mutation screening in PKD1 and PKD2"],"prefix":"10.1186","volume":"12","author":[{"given":"Stanislas","family":"Bataille","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvon","family":"Berland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Fontes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Burtey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,10,18]]},"reference":[{"key":"244_CR1","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1046\/j.1523-1755.2000.00250.x","volume":"58","author":"M Levy","year":"2000","unstructured":"Levy M, Feingold J: Estimating prevalence in single-gene kidney diseases progressing to renal failure. 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