Article
[Carrier's detection in families affected by Duchenne/Becker muscular dystrophy in which DNA from affected individuals is not available].
Neurologia i neurochirurgia polska - 1 Jan 2000
Bisko M, Zimowski J G, Fidziańska E, Zaremba J
Abstract excerpt
Carrier/noncarrier status of the mutated dystrophin gene was established in 9 females from four families with Duchenne/Becker muscular dystrophy, in which samples of DNA from the affected members were not available. Analysis of extra- and intragenic polymorphic segments of the dystrophin gene enabled identification of two female carriers and exclusion of carriership in four females. In three cases the results...
Topics
- Alleles
- DNA Mutational Analysis
- Dystrophin
- Female
- Gene Deletion
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Male
- Muscular Dystrophy, Duchenne
- Pedigree
- Point Mutation
