Article
The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: implications for the origin of mosaicism.
American journal of medical genetics - 9 Aug 1996
Mingroni-Netto R C, Haddad L A, Vianna-Morgante A M
Abstract excerpt
The size of the CGG repeat of the FMR1 gene was investigated with probe StB12.3 in 154 transmissions to the offspring of heterozygotes for the premutation and the full mutation. Among the 135 offspring of premutated heterozygotes there were three decreases in size of the repeats: in two of these...
Topics
- DNA
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genomic Imprinting
- Heterozygote
- Humans
- Male
- Mosaicism
- Mutation
- Nerve Tissue Proteins
- RNA-Binding Proteins
- Restriction Mapping
- Trinucleotide Repeats