title: Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
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.
authors: Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
authors: S
authors: S
authors: Ranta
authors: A E
authors: AE
authors: Lehesjoki
authors: A
authors: A
authors: Hirvasniemi
authors: J
authors: J
authors: Weissenbach
authors: B
authors: B
authors: Ross
authors: S M
authors: SM
authors: Leal
authors: A
authors: A
authors: de la Chapelle
authors: T C
authors: TC
authors: Gilliam
mesh_terms: D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000737:chemistry / Q000378:metabolism; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers / Q000378:metabolism; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D015698:Genomic Library; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree
chemical_list: D017931:DNA Primers; D005819:Genetic Markers