Article
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
Nature genetics - 1 Jun 1993
Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk A J, Jorens H Z, Darby J K, Oostra B
Abstract excerpt
Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR-1) located in Xq27.3. Anticipation in this syndrome is associated with progressive amplification of the...
Topics
- DNA Mutational Analysis
- Embryonic and Fetal Development
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Amplification
- Humans
- Lymphocytes
- Male
- Meiosis
- Methylation
- Models, Genetic
- Mutation
- Nerve Tissue Proteins
- Open Reading Frames
- Polymerase Chain Reaction