Analysis of haplotypes constructed with microsatellites linked to the FMR-1 gene in families with Fragile X Syndrome in Cundinamarca, Eje Cafetero and Valle del Cauca.

The project "Analysis of haplotypes constructed using microsatellites linked to the FMR-1 gene in families with Fragile X Syndrome from Cundinamarca, the Coffee Axis, and Valle del Cauca" aims to deepen the genetic characterization of Fragile X Syndrome by studying haplotypes associated with the FMR-1 gene, the primary cause of this hereditary disorder. By analyzing microsatellite markers closely linked to this gene in families from various regions of Colombia, the research will enable the identification of inheritance patterns, the determination of potential founder effects, and the assessment of genetic variability across populations. The findings will contribute to strengthening knowledge regarding the molecular epidemiology of Fragile X Syndrome in the country, improving diagnostic and genetic counseling strategies, and generating scientific evidence to support the development of more precise interventions for affected families, as well as future research in human genetics and precision medicine