Screening of mutations in the non-duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease
Project goals
Analysis of mutations in non-duplicated region of the PKD1 gene in selected families with ADPKD by screening methods (SSCP,HA,DGGE) and following sequencing of positive fragments.
Keywords
ADPKDscreening of mutationsPKD1 geneDNAseqenationdiagnosisphenotypegenotype
Public support
Provider
Ministry of Health
Programme
Research and development in the sphere of paediatrics and genetics
Call for proposals
Výzkum a vývoj v oblasti Kardiovaskulárních chorob 14 (SMZ02003NE)
Main participants
Všeobecná fakultní nemocnice v Praze
Contest type
VS - Public tender
Contract ID
—
Alternative language
Project name in Czech
Záchyt mutací v neduplikované oblasti genu PKD1 v rodinách s autosomálně dominantně dědičnou polycystickou chorobou ledvin
Annotation in Czech
Mutační analýza neduplikované oblasti genu PKD1 ve vybraném souboru rodin s ADPKD pomocí screeningových metod (SSCP,HA,DGGE) a následná sekvenační analýza 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
10603 - Genetics and heredity (medical genetics to be 3)
10604 - Reproductive biology (medical aspects to be 3)
10605 - Developmental biology
10608 - Biochemistry and molecular biology
10609 - Biochemical research methods
30101 - Human genetics
30209 - Paediatrics
30217 - Urology and nephrology
30218 - General and internal medicine
30219 - Gastroenterology and hepatology
30220 - Andrology
Completed project evaluation
Provider evaluation
V - Vynikající výsledky projektu (s mezinárodním významem atd.)
Project results evaluation
In mutation analysis of the non-duplicated region of the PKD1gene in 90families withADPKDwe detected 21mutations:8nonsense,6missense,3frameshifting+4 in splice site.16mutations are unique for Czech Republic.
Solution timeline
Realization period - beginning
Jan 1, 2003
Realization period - end
Jan 1, 2005
Project status
U - Finished project
Latest support payment
—
Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP06-MZ0-NE-U/02:1
Data delivery date
Jun 23, 2006
Finance
Total approved costs
3,439 thou. CZK
Public financial support
3,364 thou. CZK
Other public sources
0 thou. CZK
Non public and foreign sources
0 thou. CZK
Basic information
Recognised costs
3 439 CZK thou.
Public support
3 364 CZK thou.
97%
Provider
Ministry of Health
CEP
EB - Genetics and molecular biology
Solution period
01. 01. 2003 - 01. 01. 2005