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

Am J Med Genet. 1999 May 28;84(3):214-6. doi: 10.1002/(sici)1096-8628(19990528)84:3<214::aid-ajmg9>3.3.co;2-1.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Czech Republic
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Genetics, Population
  • Haplotypes
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics*
  • RNA-Binding Proteins*

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein