Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p

Genome Res. 1996 May;6(5):351-60. doi: 10.1101/gr.6.5.351.

Abstract

Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast / chemistry
  • Chromosomes, Artificial, Yeast / metabolism
  • Chromosomes, Human, Pair 8*
  • DNA Primers / metabolism
  • Epilepsy / complications
  • Epilepsy / genetics*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Genomic Library
  • Genotype
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Microsatellite Repeats
  • Pedigree

Substances

  • DNA Primers
  • Genetic Markers