Article
RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome.
Human genetics - 1 Sept 1995
Dreesen J C, Geraedts J P, Dumoulin J C, Evers J L, Pieters M H
Abstract excerpt
In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymera...
Topics
- Alleles
- Blastocyst
- Electrophoresis, Polyacrylamide Gel
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Markers
- Genetic Testing
- Genotype
- Heterozygote
- Humans
- Meiosis
- Models, Genetic
- Mutation
- Nerve Tissue Proteins
- Oocytes
- Polymerase Chain Reaction
- Polymorphism, Genetic