Epidemiology of the fragile X (FMR1) gene
Early diagnosis and intervention are likely to lead to improved outcome for children with fragile X syndrome by virtue of the opportunity for participation in early intervention programs, however such strategies require better estimates of the frequencies of expanded (CGG-repeat) alleles of the FMR1 gene. We have recently developed a rapid PCR-based method that is capable of identifying the presence of all expanded alleles for both males and females using newborn bloodspots.
Current research on FMR1 epidemiology
Our current focus is the further optimization and application of rapid screening methods for expanded FMR1 alleles, and quantitative assays for FMRP. Our work in this area includes:
- Application of rapid screening methods for assessment of the frequencies of expanded FMR1 alleles in the general population (e.g., newborn screening using bloodspots) and in high-risk populations (e.g., developmentally delayed/autistic children; older adults with ataxia or other features suggestive of FXTAS).
- Use of our recently developed quantitative ELISA assay to define the relationships between allele status (e.g., the presence and nature of mosaicism) and total protein levels, and the relationship between FMRP levels and the degree of clinical involvement.
