Politis-Tsegos C, Lang A, Stathopoulou R, Lehmann H
Hum Genet. 1976 Jan 28;31(1):67-74. doi: 10.1007/BF00270401.
The question, "Is Hb G alpha Philadelphia linked to alpha-thalassaemia?" was first posed because the abnormal haemoglobin is found in heterozygotes at a concentration greater than 25%, the proportion predicted from a 4 alpha-chain gene model. Globin chain biosynthesis was studied in a West Indian family in which one parent had beta + thalassaemia and the other was heterozygous for the G alpha Philadelphia chain gene. The former had a globin chain production ratio alpha/beta well above 1, while the latter had a ratio significantly less than 1. One child of the marriage had inherited the beta + thalassaemia from one parent and the G alpha Philadelphia chain gene from the other and showed the typical picture of alpha/beta-thalassaemia (alpha/beta ratio slightly above normal). It is explained in the discussion that the evidence favours a close linkage of 2 alpha-chain genes.
“血红蛋白Gα费城型与α地中海贫血有关联吗？”这个问题首次被提出，是因为在杂合子中发现这种异常血红蛋白的浓度大于25%，这一比例是由4α链基因模型预测出来的。在一个西印度家庭中对珠蛋白链生物合成进行了研究，该家庭中一位家长患有β+地中海贫血，另一位是Gα费城链基因的杂合子。前者的珠蛋白链生成比例α/β远高于1，而后者的比例则明显低于1。这对夫妻的一个孩子从一方继承了β+地中海贫血，从另一方继承了Gα费城链基因，表现出典型的α/β地中海贫血症状（α/β比例略高于正常）。讨论中解释说，证据支持两个α链基因紧密连锁。
