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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285138" target="_blank" >RIV/00216208:11110/14:10285138 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10285138

Výsledek na webu

<a href="http://dx.doi.org/10.1186/1471-2350-15-41" target="_blank" >http://dx.doi.org/10.1186/1471-2350-15-41</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/1471-2350-15-41" target="_blank" >10.1186/1471-2350-15-41</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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: Screenin

Název v anglickém jazyce

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

Popis výsledku anglicky

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: Screenin

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

<a href="/cs/project/NR9427" target="_blank" >NR9427: Záchyt mutací v duplikované oblasti genu PKD1 v rodinách s autosomálně dominantně dědičnou polycystickou chorobou ledvin</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

—

Svazek periodika

15

Číslo periodika v rámci svazku

neuveden

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

12

Strana od-do

—

Kód UT WoS článku

000334541800001

EID výsledku v databázi Scopus

—