Journal article
The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones
European journal of human genetics : EJHG, Vol.6(1), pp.89-94
01/1998
DOI: 10.1038/sj.ejhg.5200157
PMID: 9781019
Abstract
We have systematically isolated and characterized DNA containing large CTG (n>7) repeats from a human cosmid genomic DNA library. Using a CTG10 probe, more than 100 cosmid clones were identified, and 30 of these have been extensively characterized. The sequenced cosmids contain repeats that are between three and 19 perfect units (average 10 perfect repeats). The cosmids map to at least 12 different chromosomes. Sequence analysis of flanking regions suggests that more than one third of the repeats occur in exons, and many share strong sequence identity with databank sequences, including the gene involved in dentatorubral pallidoluysian atrophy (DRPLA). Genotyping of human DNA samples demonstrates that more than half of the repeats are polymorphic. This and similar collections of clones containing trinucleotide repeats should aid in the identification of genes that may contain expansions of trinucleotide repeats involved in human disease.
Details
- Title: Subtitle
- The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones
- Creators
- Robert A PhilibertNina Horelli-KuitunenAdelaide S RobbYu-Hsien LeeRobert T LongPatricia Damschroder-WilliamsBrian M MartinMiles B BrennanAarno PalotieEdward I Ginns
- Resource Type
- Journal article
- Publication Details
- European journal of human genetics : EJHG, Vol.6(1), pp.89-94
- DOI
- 10.1038/sj.ejhg.5200157
- PMID
- 9781019
- NLM abbreviation
- Eur J Hum Genet
- ISSN
- 1018-4813
- eISSN
- 1476-5438
- Language
- English
- Date published
- 01/1998
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Psychiatry; Iowa Neuroscience Institute
- Record Identifier
- 9984003927302771
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