Restriction map of a YAC and cosmid contig encompassing the oculopharyngeal muscular dystrophy candidate region on chromosome 14q11.2-q13

Genomics. 1998 Sep 1;52(2):201-4. doi: 10.1006/geno.1998.5421.


As part of our effort to clone positionally the oculopharyngeal muscular dystrophy (OPMD) gene, we constructed a YAC contig, a cosmid contig, and an EcoRI restriction map of the OPMD candidate region. The YAC contig spans more than 2 Mb and encompasses the loci D14S283 and D14S990 and the cardiac alpha and beta myosin heavy chain genes (MYH6 and MYH7). A 700-kb cosmid contig containing the D14S990 and the myosin genes and a long-range restriction map covering the region between D14S990 and the MYH6 and MYH7 gene cluster were established. A detailed EcoRI restriction map of the cosmid contig was determined, and five putative CpG islands were identified. Based on these data, the four loci were mapped within an approximately 600-kb region with the following centromere to telomere order: D14S283, D14S990, MYH6, and MYH7. The YAC and cosmid contigs will facilitate the identification of genes lying within the OPMD candidate interval.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Walking
  • Chromosomes, Human, Pair 14 / genetics*
  • Contig Mapping
  • Electrophoresis, Gel, Pulsed-Field
  • Genes / genetics*
  • Genetic Markers
  • Humans
  • Muscular Dystrophies / genetics*
  • Oculomotor Muscles
  • Pharyngeal Muscles
  • Restriction Mapping


  • Genetic Markers