Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

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• 作者：Lena Obeidova (1)
  Veronika Elisakova (1)
  Jitka Stekrova (1)
  Jana Reiterova (2)
  Miroslav Merta (1)
  Vladimir Tesar (2)
  Frantisek Losan (3)
  Milada Kohoutova (1)
  
  1. Institute of Biology and Medical Genetics of the First Faculty of Medicine and General University Hospital ; Albertov 4 ; 128 00 ; Prague ; Czech Republic
  2. Department of Nephrology of the First Faculty of Medicine and General University Hospital ; U Nemocnice 2 ; 128 08 ; Prague ; Czech Republic
  3. Genetika Plze艌 ; s.r.o. ; Parkov谩 1254/11a ; 326 00 ; Plze艌-膶ernice ; Czech Republic
  
• 关键词：ADPKD ; PKD gene ; Mutational analysis ; Mutation ; HRM ; MLPA ; Polycystic kidney disease
• 刊名：BMC Medical Genetics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：15
• 期：1
• 全文大小：326 KB
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  51. The pre-publication history for this paper can be accessed here: 50/15/41/prepub" class="a-plus-plus">http://www.biomedcentral.com/1471-2350/15/41/prepub
  
• 刊物主题：Human Genetics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2350

文摘

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagnostics of ADPKD challenging. The present study is the first detailed analysis of both PKD genes in a cohort of Czech patients with ADPKD using High Resolution Melting analysis (HRM) and Multiplex Ligation-dependent Probe Amplification (MLPA). Methods The mutational analysis of PKD genes was performed in a set of 56 unrelated patients. For mutational screening of the PKD1 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 PKD2 gene by the method of HRM and for large rearrangements of both PKD1 and PKD2 genes by MLPA. Results Screening of the PKD1 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 PKD1 gene in one patient. Via the mutational analysis of the PKD2 gene, two additional likely pathogenic mutations were detected. Conclusions Probable pathogenic mutation was detected in 71% of screened patients. Determination of PKD 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.