A 900-kb Cosmid Contig and 10 New Transcripts within the Candidate Region for Myotubular Myopathy (MTM1)
| Autor: | Petra Kioschis, Sabina Liechti-Gallati, Sabine M. Klauck, Johannes F. Coy, Ute Christine Rogner, Elke Pick, Jocelyn Laporte, Nina S. Heiss, Bernhard Korn, Renate Siebenhaar, Annemarie Poustka |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
Genetic Markers DNA Complementary X Chromosome Transcription Genetic Genetic Linkage Molecular Sequence Data Restriction Mapping Gene Expression Hybrid Cells Gene mutation Biology Polymerase Chain Reaction Muscular Diseases Gene mapping Genetic linkage Cricetinae Genetics Animals Humans Genomic library Muscle Skeletal DNA Primers Gene Library Base Sequence Contig cDNA library Chromosome Mapping Exons Cosmids Protein Tyrosine Phosphatases Non-Receptor Xq28 Cosmid Female Chromosome Deletion Protein Tyrosine Phosphatases |
| Zdroj: | Genomics. 33:365-373 |
| ISSN: | 0888-7543 |
| Popis: | The X-linked myotubular myopathy locus (MTM1) has been assigned to the Xq28 region by linkage analysis. By observation of an interstitial deletion in a female patient, the candidate region could be further reduced to a region of 600 kb flanked by the markers DXS304 and DXS497. We describe here cosmid contigs covering a region of 900 kb, including the entire MTM1 candidate region. Cosmids from the region were used to construct an enriched cDNA library from this area. Filter grids carrying this library were then screened by hybridization with whole cosmid clones, with CpG island-containing fragments from linking clones located in the area, and with total exon trap products of cosmid clones from the candidate region. In this analysis, 10 new transcripts were identified and localized precisely within the map. Genes in this area are candidates for MTM1 and a number of other diseases localized by genetic linkage studies to the chromosomal band Xq28. |
| Databáze: | OpenAIRE |
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