Hatton C S, Wilkie A O, Drysdale H C, Wood W G, Vickers M A, Sharpe J, Ayyub H, Pretorius I M, Buckle V J, Higgs D R
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.
Blood. 1990 Jul 1;76(1):221-7.
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.
我们描述了一个家族，其中α地中海贫血与α珠蛋白基因上游区域62千碱基的缺失相关联。DNA序列分析表明，该缺失下游的两个α基因的转录单元是正常的。然而，在含有异常（αα）RA染色体的种间杂种中，它们无法指导α珠蛋白的合成。似乎很可能，与在人类β珠蛋白基因簇相应位置检测到的那些类似的先前未鉴定的正调控序列被此缺失移除了。
