title: Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic.
abstract: 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.
authors.affiliation: Research Institute of Child Health, Brno, Czech Republic.
authors.forename: V
authors.initials: V
authors.lastname: Pekarík
authors.forename: M
authors.initials: M
authors.lastname: Blazková
authors.forename: L
authors.initials: L
authors.lastname: Kozák
mesh_terms: D000483:Alleles; D018153:Czech Republic; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human