Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly
| Autor: | Christina Masciangelo, Oleg Verlinsky, Randy Morris, T Sharapova, Yury Verlinsky, Svetlana Rechitsky, Anver Kuliev, Seckin Ozen |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
Blastomeres animal structures DNA Mutational Analysis Preimplantation genetic diagnosis Polymerase Chain Reaction law.invention Holoprosencephaly law medicine Humans Hedgehog Proteins Genetic Testing Sonic hedgehog Gene Polymerase chain reaction Preimplantation Diagnosis Genetic testing Genetics biology medicine.diagnostic_test General Medicine medicine.disease Pedigree genomic DNA Codon Nonsense embryonic structures Mutation (genetic algorithm) biology.protein Trans-Activators Female |
| Zdroj: | The New England journal of medicine. 348(15) |
| ISSN: | 1533-4406 |
| Popis: | Mutations in the sonic hedgehog gene have been linked to holoprosencephaly. Mosaicism for the sonic hedgehog mutation was identified by single-sperm testing in a man who had fathered two affected children. Genomic DNA was normal in both parents on screening. The use of preimplantation genetic diagnosis led to the birth of a healthy girl who was confirmed to be free of the sonic hedgehog mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|