Article
Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available.
Annales de genetique - 1 Jan 2000
Alcántara M A, García-Cavazos R, Hernández-U E, González-del Angel A, Carnevale A, Orozco L
Abstract excerpt
In this paper we report a family where the affected DMD patients were not available for study and a molecular strategy was used for female carriers detection and for prenatal diagnosis. Linkage analysis was performed with two markers within the DMD gene, in all family members screened. DMD markers used (pERT87.8/Taq1 and pERT87.15/Xmn1) seemed not to be informative because the propositas mother (II-2) was...
Topics
- Adult
- Alleles
- Amniotic Fluid
- Densitometry
- Dystrophin
- Exons
- Family Health
- Female
- Gene Deletion
- Genetic Linkage
- Genetic Markers
- Heterozygote
- Homozygote
- Humans