Article
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.
American journal of human genetics - 1 Oct 1990
Cremers F P, Sankila E M, Brunsmann F, Jay M, Jay B, Wright A, Pinckers A J, Schwartz M, van de Pol D J, Wieringa B
Abstract excerpt
Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel electrophoresis, and cloning of a deletion junction fragment. With these clones we were able to identify and characterize eight deletions i...
Topics
- Blotting, Southern
- Choroideremia
- Chromosome Deletion
- Chromosome Mapping
- Chromosome Walking
- Cloning, Molecular
- DNA Probes
- Electrophoresis, Agar Gel
- Female
- Genetic Markers
- Humans
- Male
- Phenotype
- Sex Chromosome Aberrations
- X Chromosome