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Title

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

Authors
Lucente, D.
Chen, H. M.
Shea, D.
Samec, S. N.
Rutter, M.
Chrast, R.
Buckler, A.
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Published in Human Molecular Genetics. 1995, vol. 4, no. 8, p. 1305-1311
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.
Keywords Base SequenceChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 21/ geneticsCloning, MolecularCosmidsDNA Primers/geneticsDNA, Complementary/geneticsDown Syndrome/ geneticsExonsHumansMolecular Sequence Data
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PMID: 7581367
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LUCENTE, D. et al. Localization of 102 exons to a 2.5 Mb region involved in Down syndrome. In: Human Molecular Genetics, 1995, vol. 4, n° 8, p. 1305-1311. doi: 10.1093/hmg/4.8.1305 https://archive-ouverte.unige.ch/unige:9216

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Deposited on : 2010-07-12

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