Prenatální diagnostika tuberózní sklerózy zalozená na znalosti kauzální mutace
[Prenatal diagnostics of tuberous sclerosis based on causal mutation knowledge]
Language Czech Country Czech Republic Media print
Document type Journal Article
PubMed
16521402
- MeSH
- Tuberous Sclerosis Complex 1 Protein MeSH
- Humans MeSH
- Mutation * MeSH
- Tumor Suppressor Proteins genetics MeSH
- Prenatal Diagnosis * MeSH
- Pedigree MeSH
- Pregnancy MeSH
- Tuberous Sclerosis Complex 2 Protein MeSH
- Tuberous Sclerosis diagnosis MeSH
- Genes, Tumor Suppressor * MeSH
- Check Tag
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Tuberous Sclerosis Complex 1 Protein MeSH
- Tumor Suppressor Proteins MeSH
- TSC1 protein, human MeSH Browser
- TSC2 protein, human MeSH Browser
- Tuberous Sclerosis Complex 2 Protein 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.
