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Dutch β °‐thalassaemia: a 10 kilobase DNA deletion associated with significant γ‐chain production
Author(s) -
Gilman J. G.,
Huisman T. H. J.,
Abels J.
Publication year - 1984
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1984.tb03961.x
Subject(s) - biology , restriction enzyme , genetics , gene , gene cluster , dna , microbiology and biotechnology , globin
S ummary . A unique β °‐thalassaemia in a Dutch family results in fetal haemoglobin expression comparable to that of δ° β °‐thalassaemia. Haemoglobin analysis and restriction endonuclease mapping studies of DNA suggest that the β ‐globin gene is entirely deleted, but that the δ‐globin gene is intact. The 5’break point of the deletion is 3–4 kilobases 3’to the δ‐globin gene, while the 3’break point is 6–7 kilobases 3’to the β ‐globin gene (relative to the normal DNA restriction map). The result is a ˜ 10 kilobase deletion of DNA whose 3’end point may lie very close to that for one δ° β °‐thalassaemia, within a cluster of Kpn I‐family repetitive sequences. The Dutch β °‐thalassaemia deletion is thus the shortest one which, in the absence of additional chromosomal rearrangements, results in enhancement of γ‐chain synthesis above that seen for haemoglobin Lepore. These data support the hypothesis that the region of DNA 3’to the β ‐globin gene may be important to the developmental regulation of fetal γ versus adult β chain production.