Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy
Hofker, M. H. ; Bergen, A. A. B. ; Skraastad, M. I. ; Bakker, E. ; Francke, U. ; Wieringa, B. ; Bartley, J. ; Ommen, G. J. B. ; Pearson, P. L.
Springer
Published 1986
Springer
Published 1986
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Summary We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295621633835008 |
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| autor | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. |
| autorsonst | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. |
| book_url | http://dx.doi.org/10.1007/BF00282548 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM20561549X |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | Summary We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy. |
| package_name | Springer |
| publikationsjahr_anzeige | 1986 |
| publikationsjahr_facette | 1986 |
| publikationsjahr_intervall | 8014:1985-1989 |
| publikationsjahr_sort | 1986 |
| publisher | Springer |
| reference | 74 (1986), S. 275-279 |
| search_space | articles |
| shingle_author_1 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. |
| shingle_author_2 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. |
| shingle_author_3 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. |
| shingle_author_4 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. |
| shingle_catch_all_1 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy Summary We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy. 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy Summary We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy. 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy Summary We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy. 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Hofker, M. H. Bergen, A. A. B. Skraastad, M. I. Bakker, E. Francke, U. Wieringa, B. Bartley, J. Ommen, G. J. B. Pearson, P. L. Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy Summary We have isolated a random cosmid cX5 (DXS148), which maps into a small Xp21 deletion associated with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), retinitis pigmentosa (RP) and McLeod syndrome. cX5 maps proximally outside several other deletions associated with DMD, glycerol kinase deficiency (GK) and adrenal hypoplasia (AHC). The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere. A subclone cX5.7, isolated from this cosmid, identifies an MspI RFLP, with a minor allele frequency of 35%. This probe forms an important adjunct to the existing RFLPs for family studies in Duchenne muscular dystrophy. 1432-1203 14321203 Springer |
| shingle_title_1 | Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
| shingle_title_2 | Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
| shingle_title_3 | Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
| shingle_title_4 | Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:07.058Z |
| titel | Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
| titel_suche | Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM20561549X |