Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic.

We report on the haplotype analysis with polymorphic repeat markers DXS548 and FRAXAC1 next to the FMR1 gene in 37 unrelated fragile X and 36 control chromosomes from Bohemia and Moravia. Our results suggest a significant linkage disequilibrium between fragile X mutations and certain DXS548-FRAXAC1 haplotypes. Allele frequencies obtained differ slightly from those of other European populations with allele 194 being less frequent in our control sample. Rare DXS548 alleles 6.5 (195) and 0 (208) were also present.