High-Resolution Mapping and Transcript Identification at the Progressive Epilepsy with Mental Retardation Locus on Chromosome 8p
- Susanna Ranta1,
- Anna-Elina Lehesjoki2,
- Maria de Fatima Bonaldo1,
- James A. Knowles1,
- Aune Hirvasniemi3,
- Barbara Ross1,
- Pieter J. de Jong4,
- Marcelo Bento Soares1,
- Albert de la Chapelle2, and
- T. Conrad Gilliam1,5
- 1Departments of Psychiatry, Genetics and Development, and Columbia Genome Center, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York, New York 10032; 2Department of Medical Genetics, University of Helsinki, and the Department of Molecular Genetics, the Folkhälsan Institute of Genetics, Helsinki, Finland; 3Department of Pediatrics, Kainuu Central Hospital, Finland; 4Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263
Abstract
Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive central nervous system disorder characterized by childhood onset epilepsy and subsequent mental retardation. The locus for EPMR has been mapped to human chromosome 8p23. We recently reported the construction of a YAC contig across the 4 centimorgan minimum genetic region that harbors the disease locus. We now report further delineation of the critical region to <700 kb. Our mapping strategy relied on the identification of nine novel microsatellite markers and the construction of a complete BAC contig across the critical region. Several partial gene sequences have been identified from the region and are being analyzed as candidate genes for EPMR.
[The sequence data described in this paper have been submitted to the GenBank data library under accession nos. AF009188–AF009214.]
Footnotes
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↵5 Corresponding author.
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E-MAIL TCG1{at}columbia.edu; FAX (212) 543-6002.
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- Received June 9, 1997.
- Accepted July 25, 1997.
- Cold Spring Harbor Laboratory Press
