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High structural and sequence complexity of<jats:italic>PKD<\/jats:italic>genes makes the mutational diagnostics of ADPKD challenging. The present study is the first detailed analysis of both<jats:italic>PKD<\/jats:italic>genes in a cohort of Czech patients with ADPKD using High Resolution Melting analysis (HRM) and Multiplex Ligation-dependent Probe Amplification (MLPA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The mutational analysis of<jats:italic>PKD<\/jats:italic>genes was performed in a set of 56 unrelated patients. For mutational screening of the<jats:italic>PKD1<\/jats:italic>gene, the long-range PCR (LR-PCR) strategy followed by nested PCR was used. Resulting PCR fragments were analyzed by HRM; the positive cases were reanalyzed and confirmed by direct sequencing. Negative samples were further examined for sequence changes in the<jats:italic>PKD2<\/jats:italic>gene by the method of HRM and for large rearrangements of both<jats:italic>PKD1<\/jats:italic>and<jats:italic>PKD2<\/jats:italic>genes by MLPA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Screening of the<jats:italic>PKD1<\/jats:italic>gene revealed 36 different likely pathogenic germline sequence changes in 37 unrelated families\/individuals. Twenty-five of these sequence changes were described for the first time. Moreover, a novel large deletion was found within the<jats:italic>PKD1<\/jats:italic>gene in one patient. Via the mutational analysis of the<jats:italic>PKD2<\/jats:italic>gene, two additional likely pathogenic mutations were detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Probable pathogenic mutation was detected in 71% of screened patients. Determination of<jats:italic>PKD<\/jats:italic>mutations and their type and localization within corresponding genes could help to assess clinical prognosis of ADPKD patients and has major benefit for prenatal and\/or presymptomatic or preimplantational diagnostics in affected families as well.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-15-41","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T01:01:46Z","timestamp":1396486906000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease"],"prefix":"10.1186","volume":"15","author":[{"given":"Lena","family":"Obeidova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Elisakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitka","family":"Stekrova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Reiterova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav","family":"Merta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Tesar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frantisek","family":"Losan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milada","family":"Kohoutova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,4,3]]},"reference":[{"key":"1188_CR1","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1056\/NEJM199307293290508","volume":"329","author":"PA Gabow","year":"1993","unstructured":"Gabow PA: Autosomal dominant polycystic kidney disease. 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