PMID: 7581367Aug 1, 1995Paper

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

Human Molecular Genetics
D LucenteM K McCormick

Abstract

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.

Citations

May 18, 2000·Biochemical and Biophysical Research Communications·K ShibuyaN Shimizu
May 1, 1996·Human Genetics·M YoungS E Antonarakis
Jun 1, 1996·Mammalian Genome : Official Journal of the International Mammalian Genome Society·K OsoegawaE Soeda
Nov 14, 1997·Current Opinion in Biotechnology·M B Soares
Aug 1, 2007·The Journal of Comparative Neurology·Pavel V BelichenkoWilliam C Mobley
Aug 7, 1998·Genomics·S E Antonarakis
Jul 10, 2003·Molecular Psychiatry·H ChenM G McInnis
Jan 1, 1996·Human Molecular Genetics·D Hernandez, E M Fisher
Jan 8, 1999·Biochemical and Biophysical Research Communications·Z RahmaniJ M Delabar

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