{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T12:28:01Z","timestamp":1753273681005},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,3,22]],"date-time":"2014-03-22T00:00:00Z","timestamp":1395446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition caused by <jats:italic>PKD1<\/jats:italic> and <jats:italic>PKD2<\/jats:italic> mutations. Complete analysis of both genes is typically required in each patient. In this study, we explored the utility of High\u2010Resolution Melt (HRM) as a tool for mutation analysis of the <jats:italic>PKD2<\/jats:italic> gene in ADPKD families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>HRM is a mismatch\u2010detection method based on the difference of fluorescence absorbance behavior during the melting of the DNA double strand to denatured single strands in a mutant sample as compared to a reference control. Our families were previously screened by linkage analysis. Subsequently, HRM was used to characterize <jats:italic>PKD2<\/jats:italic>\u2010linked families. Amplicons that produced an overlapping profile sample versus wild\u2010type control were not further evaluated, while those amplicons with profile deviated from the control were consequently sequenced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We analyzed 16 <jats:italic>PKD2\u2010<\/jats:italic>linked families by HRM analysis. We observed ten different variations: six single\u2010nucleotide polymorphisms and four mutations. The mutations detected by HRM and confirmed by sequencing were as follows: 1158T&gt;A, 2159delA, 2224C&gt;T, and 2533C&gt;T. In particular, the same haplotype block and nonsense mutation 2533C&gt;T was found in 8 of 16 families, so we suggested the presence of a founder effect in our province.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We have developed a strategy for rapid mutation analysis of the <jats:italic>PKD2<\/jats:italic> gene in ADPKD families, which utilizes an HRM\u2010based prescreening followed by direct sequencing of amplicons with abnormal profiles. This is a simple and good technique for <jats:italic>PKD2<\/jats:italic> genotyping and may significantly reduce the time and cost for diagnosis in ADPKD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.21689","type":"journal-article","created":{"date-parts":[[2014,3,22]],"date-time":"2014-03-22T18:53:02Z","timestamp":1395514382000},"page":"328-334","source":"Crossref","is-referenced-by-count":3,"title":["High\u2010Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD)"],"prefix":"10.1002","volume":"28","author":[{"given":"Grazia Maria","family":"Virz\u00ec","sequence":"first","affiliation":[{"name":"Department of Nephrology Dialysis and Transplant St. Bortolo Hospital  Vicenza Italy"},{"name":"IRRIV\u2014International Renal Research Institute  Vicenza Italy"},{"name":"Clinical Genetics Unit Department of Women's and Children's Health University of Padua  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Bruson","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Women's and Children's Health University of Padua  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Corradi","sequence":"additional","affiliation":[{"name":"Department of Nephrology Dialysis and Transplant St. Bortolo Hospital  Vicenza Italy"},{"name":"IRRIV\u2014International Renal Research Institute  Vicenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorella","family":"Gastaldon","sequence":"additional","affiliation":[{"name":"Department of Nephrology Dialysis and Transplant St. Bortolo Hospital  Vicenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"de Cal","sequence":"additional","affiliation":[{"name":"Department of Nephrology Dialysis and Transplant St. Bortolo Hospital  Vicenza Italy"},{"name":"IRRIV\u2014International Renal Research Institute  Vicenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Don\u00e0","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Women's and Children's Health University of Padua  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinna N.","family":"Cruz","sequence":"additional","affiliation":[{"name":"Department of Nephrology Dialysis and Transplant St. Bortolo Hospital  Vicenza Italy"},{"name":"IRRIV\u2014International Renal Research Institute  Vicenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Clementi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Women's and Children's Health University of Padua  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Ronco","sequence":"additional","affiliation":[{"name":"Department of Nephrology Dialysis and Transplant St. Bortolo Hospital  Vicenza Italy"},{"name":"IRRIV\u2014International Renal Research Institute  Vicenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1991.306"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199307293290508"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2007.04.009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20842"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90339-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90137-6"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5266.1339"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080835"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2007010125"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-151"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2002.00326.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4851"},{"key":"e_1_2_6_14_1","unstructured":"Autosomal Dominant Polycystic Kidney Disease Mutation Database: PKDB. 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