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Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.

Abstract:

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 t...

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Authors


Hatton, CS More by this author
Wilkie, AO More by this author
Drysdale, HC More by this author
Vickers, MA More by this author
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Journal:
Blood
Volume:
76
Issue:
1
Pages:
221-227
Publication date:
1990-07-05
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:3ecc4b8e-6e10-492e-aa02-016c9d0eec23
Source identifiers:
252546
Local pid:
pubs:252546

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