Summary
We report here a new human α-globin gene rearrangement carrying the two normal, α2 and α1, and two hybrid, α1/α2, globin genes in the order 5′-α2-α1/α2-α1/α2-α1-3′. Both the hybrid genes, subtyped with ApaI and RsaI restriction enzymes, were found to be of the uncommon anti 3.7 type II. The hybrid genes were expressed at the biosynthetic level and their interaction with the β-thalassaemia IVS 1 nt 1 G→A mutation caused thalassaemia intermedia. We also report a case of an ααα-globin gene rearrangement in the twin of one of the αααα-globin gene carriers; the duplicated gene was of the anti 4.2 type and was associated with the absence of RsaI polymorphism. The singular finding of an αααα-anti 3.7 cluster with two identical rare hybrid genes suggests that the reciprocal unequal recombination causing the α-globin gene rearrangements could be of the intra-chromosomal rather than the interchromosomal type.
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De Angioletti, M., Lacerra, G., Castaldo, C. et al. ααααanti-3.7 type II: a new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination. Hum Genet 89, 37–41 (1992). https://doi.org/10.1007/BF00207039
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DOI: https://doi.org/10.1007/BF00207039