Lambridis A J, Ramsay M, Jenkins T
Br J Haematol. 1986 Jun;63(2):363-7. doi: 10.1111/j.1365-2141.1986.tb05561.x.
Molecular studies have shown that the mutation giving rise to Hb J Cape Town (alpha 92 arg----gln) is situated on a chromosome from which the other alpha-globin gene has been deleted. The -alpha 3.7 deletion has resulted from crossing-over within segment I of the Z region of homology. There appears to be an unusually high proportion of the variant haemoglobin in heterozygotes which cannot be explained by gene dosage alone.
分子研究表明，导致血红蛋白J开普敦（α92精氨酸→谷氨酰胺）的突变位于一条染色体上，该染色体上的另一个α珠蛋白基因已被删除。-α3.7缺失是由同源Z区域I段内的交叉互换导致的。杂合子中变异血红蛋白的比例似乎异常高，这仅靠基因剂量无法解释。
