Prenatální diagnostika tuberózní sklerózy zalozená na znalosti kauzální mutace
[Prenatal diagnostics of tuberous sclerosis based on causal mutation knowledge]
Jazyk čeština Země Česko Médium print
Typ dokumentu časopisecké články
PubMed
16521402
- MeSH
- hamartin MeSH
- lidé MeSH
- mutace * MeSH
- nádorové supresorové proteiny genetika MeSH
- prenatální diagnóza * MeSH
- rodokmen MeSH
- těhotenství MeSH
- tuberin MeSH
- tuberózní skleróza diagnóza MeSH
- tumor supresorové geny * MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- hamartin MeSH
- nádorové supresorové proteiny MeSH
- TSC1 protein, human MeSH Prohlížeč
- TSC2 protein, human MeSH Prohlížeč
- tuberin MeSH
BACKGROUND: Tuberous sclerosis is an autosomal-dominant disease characterised by development of benign growth - hamartomas in different organs. Disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 or TSC2. Quest for causing mutations is very difficult due to their random distribution over the genes. METHODS AND RESULTS: Article refers on accomplishment of the first tuberous sclerosis prenatal diagnostics in Czech Republic based on knowledge of causing mutation. Foetal DNA sample, obtained in 13th week from Q435X family pregnant woman, was analyzed by DGGE method. CONCLUSIONS: Examination excluded presence of tested TSC1 gene defect in an offspring.
