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

@article{Pekak1999HaplotypeAO,
  title={Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic.},
  author={Vladim{\'i}r Pekař{\'i}k and Michaela Bla{\vz}kov{\'a} and Libor Koz{\'a}k},
  journal={American journal of medical genetics},
  year={1999},
  volume={84 3},
  pages={214-6}
}
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… CONTINUE READING