Pardoll D M, Charache S, Hjelle B L, Jones R, Phillips J A, Smith R R, Rodeheffer R J
Hemoglobin. 1982;6(5):503-15. doi: 10.3109/03630268209083763.
Microcytic red cells from a 70 year old Negro man with mild anemia contained only hemoglobin G-Philadelphia. Red cells from all of his children had low-normal MCV's, and contained 32-34 percent of the abnormal hemoglobin. Oxygen affinity of his blood and stability of his hemolysate were normal, suggesting that his mild anemia was not caused by the the abnormal hemoglobin. Restriction endonuclease analyses of DNA from the proband and his offspring showed that the alpha G-Philadelphia globin gene exists in only one copy per chromosome. The new gene was probably created by an unequal cross-over which deleted an alpha globin coding sequence (derived from one or both alpha globin genes), as well as some or all of the DNA sequence between those genes.
一名患有轻度贫血的70岁黑人男性的小红细胞仅含有血红蛋白G-费城。他所有孩子的红细胞平均体积（MCV）略低于正常水平，且含有32% - 34%的异常血红蛋白。其血液的氧亲和力和溶血产物的稳定性正常，表明他的轻度贫血并非由异常血红蛋白引起。对先证者及其后代的DNA进行限制性内切酶分析表明，α-费城球蛋白基因在每条染色体上仅以一个拷贝存在。这个新基因可能是由不等交换产生的，该交换删除了一个α球蛋白编码序列（源自一个或两个α球蛋白基因）以及这些基因之间的部分或全部DNA序列。
