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© 1995 Oxford University Press

OTHER

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

D. Lucente, H.M. Chen1, D. Shea, S.N. Samec1, M. Rutter, R. Chrast1, C. Rossier1, A. Buckler, S.E. Antonarakis1 and M.K. McCormick*

Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School Charlestown, MA 02140, USA 1Genes ‘R’ Us Laboratory of Human Molecular Genetics, Department of Genetics and Microbiology, University of Geneva Medical School and Division of Medical Genetics, University Cantonal Hospital of Geneva Switzerland

*To whom correspondence should be addressed

Received April 10, 1995; Revised June 19, 1995; Accepted June 19, 1995

Exon amplification has been applied to a 2.5 Mb region of chromosome 21 that has been associated with some features of Down syndrome (DS). Identification of the majority of genes from this region will facilitate the correlation of the over-expression of particular genes with specific phenotypes of DS. Over 100 gene fragments have been isolated from this 2.5 Mb segment. The exons have been characterized by sequence analysis, comparison with public databases and expansion to cDNA clones. Localization of the exons to chromosome 21 has been determined by hybridization to genomic Southern blots and to YAC and cosmid clones representing the region. This has resulted in a higher resolution physical map with a marker approximately every 25 kb. This integrated physical and transcript map will be valuable for fine mapping of DNA from individuals with partial aneuploidy of chromosome 21 as well as for assessing and ultimately generating a complete gene map of this segment of the genome.


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