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

Result code in 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>

Alternative codes found

RIV/00064165:_____/14:10285138

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NR9427" target="_blank" >NR9427: Screening of mutations in the duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

BMC Medical Genetics

ISSN

1471-2350

e-ISSN

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Volume of the periodical

15

Issue of the periodical within the volume

neuveden

Country of publishing house

GB - UNITED KINGDOM

Number of pages

12

Pages from-to

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UT code for WoS article

000334541800001

EID of the result in the Scopus database

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