Article
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.
Clinical chemistry - 1 Mar 2010
Filipovic-Sadic Stela, Sah Sachin, Chen Liangjing, Krosting Julie, Sekinger Edward, Zhang Wenting, Hagerman Paul J, Stenzel Timothy T, Hadd Andrew G, Latham Gary J, Tassone Flora
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5' untranslated region of the FMR1 (fragile X mental retardation 1) gene. Molecular diagnoses of FXS and other emerging FMR1 disorders typically rely on 2 tests, PCR and Southern blotting; however, performance or throughput limitations of these methods currently constrain routine testing....
Topics
- Alleles
- Female
- Fragile X Syndrome
- Homozygote
- Humans
- Mutation
- Polymerase Chain Reaction
- Sensitivity and Specificity