Orkin S H, Alter B P, Altay C
J Clin Invest. 1979 Sep;64(3):866-9. doi: 10.1172/JCI109535.
In an individual homozygous for G gamma-delta beta-thalassemia, a physical alteration in gamma-globin gene organization was detected by restriction enzyme mapping. The data indicated that the absence of A gamma-globin chains resulted from extension of the DNA deletion from the delta beta-globin gene region into the gamma-globin gene region rather than a functional disturbance of gamma-gene expression.
在一名γ-δ-β地中海贫血纯合子个体中,通过限制性内切酶图谱分析检测到γ-珠蛋白基因组织发生了物理改变。数据表明,Aγ-珠蛋白链的缺失是由于DNA缺失从δ-β珠蛋白基因区域延伸至γ-珠蛋白基因区域,而非γ基因表达的功能紊乱所致。