Article
Current status of prenatal diagnosis by DNA analysis.
Birth defects original article series - 1 Jan 1990
Kazazian H H
Abstract excerpt
In 1989 we are continuing to move gene diagnosis over to the direct detection mode. We have sickle cell anemia, alpha-thalassemia, beta-thalassemia, Duchenne muscular dystrophy, Becker muscular dystrophy and cystic fibrosis moved to direct detection with hemophilia B and alpha-1-antitrypsin deficiency soon to be there. For indirect detection, we still have hemophilia A, and a comment on the genetics of hemophilia...
Topics
- Blotting, Southern
- Chromosome Deletion
- Chromosome Mapping
- DNA Probes
- Diagnostic Errors
- Genetic Diseases, Inborn
- Genetic Markers
- Genetic Techniques
- Humans
- Mutation
- Polymerase Chain Reaction
- Predictive Value of Tests