Screening of mutations in the duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease
Public support
Provider
Ministry of Health
Programme
Departmental Programme of Research and Development - MH II from 2008 to 2011
Call for proposals
VaV pro Ministerstvo zdravotnictví 4 (SMZ02007NR)
Main participants
—
Contest type
VS - Public tender
Contract ID
NR9427-4/2007
Alternative language
Project name in Czech
Záchyt mutací v duplikované oblasti genu PKD1 v rodinách s autosomálně dominantně dědičnou polycystickou chorobou ledvin
Annotation in Czech
Mutační analýza duplikované oblasti genu PKD1 ve vybraném souboru rodin s ADPKD pomocí LR-PCR a screeningových metod s následnou sekvenační analýzou fragmentů s pozitivním nálezem. Studium vztahů mezi genotypem a klinickými projevy onemocnění.
Scientific branches
R&D category
NV - Nonindustrial research (Applied research excluded Industrial research)
CEP classification - main branch
EB - Genetics and molecular biology
CEP - secondary branch
FE - Other fields of internal medicine
CEP - another secondary branch
FG - Paediatrics
OECD FORD - equivalent branches <br>(according to the <a href="http://www.vyzkum.cz/storage/att/E6EF7938F0E854BAE520AC119FB22E8D/Prevodnik_oboru_Frascati.pdf">converter</a>)
10603 - Genetics and heredity (medical genetics to be 3)<br>10604 - Reproductive biology (medical aspects to be 3)<br>10605 - Developmental biology<br>10608 - Biochemistry and molecular biology<br>10609 - Biochemical research methods<br>30101 - Human genetics<br>30209 - Paediatrics<br>30217 - Urology and nephrology<br>30218 - General and internal medicine<br>30219 - Gastroenterology and hepatology<br>30220 - Andrology
Completed project evaluation
Provider evaluation
V - Vynikající výsledky projektu (s mezinárodním významem atd.)
Project results evaluation
Mutations of PKD1 gene detected in patients with ADPKD, where it was impossible to determine type of mutated gene by linkage analysis. 31 unique mutations detected. Improvements in genetic analysis may improve management of ADPKD.
Solution timeline
Realization period - beginning
Jan 1, 2007
Realization period - end
Jun 30, 2010
Project status
U - Finished project
Latest support payment
Dec 18, 2009
Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP11-MZ0-NS-U/04:2
Data delivery date
Jan 10, 2012
Finance
Total approved costs
4,789 thou. CZK
Public financial support
4,669 thou. CZK
Other public sources
120 thou. CZK
Non public and foreign sources
0 thou. CZK