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

Details

Serval ID
serval:BIB_B0AD21A3F39F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome
Journal
Human Molecular Genetics
Author(s)
Lucente  D., Chen  H. M., Shea  D., Samec  S. N., Rutter  M., Chrast  R., Rossier  C., Buckler  A., Antonarakis  S. E., McCormick  M. K.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
08/1995
Volume
4
Number
8
Pages
1305-11
Notes
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Aug
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 Sequence *Chromosome Mapping Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 21/*genetics Cloning, Molecular Cosmids DNA Primers/genetics DNA, Complementary/genetics Down Syndrome/*genetics *Exons Humans Molecular Sequence Data
Pubmed
Web of science
Create date
24/01/2008 14:12
Last modification date
20/08/2019 15:19
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