Article
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2010
Hantash Feras M, Goos Dana G, Tsao David, Quan Franklin, Buller-Burckle Arlene, Peng Mei, Jarvis Michael, Sun Weimin, Strom Charles M
Abstract excerpt
PURPOSE: Fragile X syndrome is caused by expansion and subsequent methylation of a CGG trinucleotide repeat in the FMR1 5'-untranslated region. Southern blot analysis is typically required to determine expansion size for triplet repeat lengths >200. We describe a triplet-primed polymerase chain reaction-based method using automated capillary electrophoresis detection for qualitative assessment of expanded CGG...
Topics
- 5' Untranslated Regions
- Blotting, Southern
- DNA
- Electrophoresis, Capillary
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Heterozygote