Article
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Molecular and cellular probes - 1 Apr 2010
Grasso Marina, Cecconi Massimiliano, Boni Stefania, Forzano Francesca, Barbaresi Maurizio, Memo Luigi, Perroni Lucia, Faravelli Francesca, Di Maria Emilio
Abstract excerpt
Most common inherited form of intellectual disability, fragile X syndrome is associated to an expansion of greater than 200 CGG repeats in the 5' untranslated region of the FMR1 gene on the X chromosome which causes transcriptional silencing and deficiency of the encoded protein FMRP. Molecular diagnosis is performed through a combination of PCR to identify fewer than 100-150 repeats and of Southern blot analysis...
Topics
- Aged, 80 and over
- Base Sequence
- Child
- DNA Mutational Analysis
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Predisposition to Disease
- Humans
- Infant, Newborn