Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
Oost, B. A. ; Zandvoort, P. M. ; Tünte, W. ; Brunner, H. G. ; Hoogeboom, A. J. M. ; Maaswinkel-Mooy, P. D. ; Bakkeren, J. ; Hamel, B. ; Ropers, H. H.
Springer
Published 1991
Springer
Published 1991
| 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 performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295622874300416 |
|---|---|
| autor | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. |
| autorsonst | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. |
| book_url | http://dx.doi.org/10.1007/BF00201845 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205629059 |
| iqvoc_descriptor_title | iqvoc_00000708:analysis |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis. |
| package_name | Springer |
| publikationsjahr_anzeige | 1991 |
| publikationsjahr_facette | 1991 |
| publikationsjahr_intervall | 8009:1990-1994 |
| publikationsjahr_sort | 1991 |
| publisher | Springer |
| reference | 86 (1991), S. 404-407 |
| search_space | articles |
| shingle_author_1 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. |
| shingle_author_2 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. |
| shingle_author_3 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. |
| shingle_author_4 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. |
| shingle_catch_all_1 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis. 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis. 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis. 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Oost, B. A. Zandvoort, P. M. Tünte, W. Brunner, H. G. Hoogeboom, A. J. M. Maaswinkel-Mooy, P. D. Bakkeren, J. Hamel, B. Ropers, H. H. Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis. 1432-1203 14321203 Springer |
| shingle_title_1 | Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| shingle_title_2 | Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| shingle_title_3 | Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| shingle_title_4 | Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:07.990Z |
| titel | Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| titel_suche | Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM205629059 |