Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.
We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1990
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| _version_ | 1826268649981214720 |
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| author | Hatton, C Wilkie, A Drysdale, H Wood, W Vickers, M Sharpe, J Ayyub, H Pretorius, I Buckle, V Higgs, D |
| author_facet | Hatton, C Wilkie, A Drysdale, H Wood, W Vickers, M Sharpe, J Ayyub, H Pretorius, I Buckle, V Higgs, D |
| author_sort | Hatton, C |
| collection | OXFORD |
| description | We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion. |
| first_indexed | 2024-03-06T21:12:56Z |
| format | Journal article |
| id | oxford-uuid:3ecc4b8e-6e10-492e-aa02-016c9d0eec23 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:12:56Z |
| publishDate | 1990 |
| record_format | dspace |
| spelling | oxford-uuid:3ecc4b8e-6e10-492e-aa02-016c9d0eec232022-03-26T14:27:49ZAlpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:3ecc4b8e-6e10-492e-aa02-016c9d0eec23EnglishSymplectic Elements at Oxford1990Hatton, CWilkie, ADrysdale, HWood, WVickers, MSharpe, JAyyub, HPretorius, IBuckle, VHiggs, DWe describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion. |
| spellingShingle | Hatton, C Wilkie, A Drysdale, H Wood, W Vickers, M Sharpe, J Ayyub, H Pretorius, I Buckle, V Higgs, D Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. |
| title | Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. |
| title_full | Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. |
| title_fullStr | Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. |
| title_full_unstemmed | Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. |
| title_short | Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. |
| title_sort | alpha thalassemia caused by a large 62 kb deletion upstream of the human alpha globin gene cluster |
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