Trent R J, Jones R W, Clegg J B, Weatherall D J, Davidson R, Wood W G
Br J Haematol. 1984 Jun;57(2):279-89. doi: 10.1111/j.1365-2141.1984.tb02897.x.
Globin gene mapping of DNA from families with (A gamma delta beta) thalassaemia has revealed a previously unreported gene deletion responsible for this condition. The deletion removes the A gamma, delta and beta genes and while its 5' end is in a similar position to that described in a previous deletion of this type, the 3' ends of the two deletions are quite different. In addition we have observed further examples of two other previously described deletions which result in this disorder. Phenotypic comparisons of families with (A gamma delta beta) thalassaemia, in which the molecular basis has been defined, show a remarkable similarity among the four different deletion defects, with important implications with regard to the mechanism by which deletions allow the continued expression of gamma genes.
对患有（Aγδβ）地中海贫血的家族的DNA进行珠蛋白基因定位，发现了一种此前未报道过的导致这种病症的基因缺失。该缺失去除了Aγ、δ和β基因，虽然其5'端与此前报道的此类缺失处于相似位置，但这两种缺失的3'端却大不相同。此外，我们还观察到另外两种此前描述过的导致这种病症的缺失的更多实例。对已明确分子基础的（Aγδβ）地中海贫血家族进行的表型比较显示，这四种不同的缺失缺陷之间存在显著相似性，这对于缺失使γ基因持续表达的机制具有重要意义。
