Higgs D R, Hill A V, Bowden D K, Weatherall D J, Clegg J B
Nucleic Acids Res. 1984 Sep 25;12(18):6965-77. doi: 10.1093/nar/12.18.6965.
We have examined the molecular structure of the human alpha globin gene complex from individuals with a common form of alpha thalassaemia in which one of the duplicated pair of alpha genes (alpha alpha) has been deleted (-alpha 3-7). Restriction mapping and DNA sequence analysis of the mutants indicate that different -alpha 3.7 chromosomes are the result of at least three independent events. In each case the genetic crossover has occurred within a region of complete homology between the alpha 1 and alpha 2 genes. Since the -alpha chromosomes may reflect the processes of crossover fixation and gene conversion between the two genes, their structures may provide some insight into the mechanism by which the concerted evolution of the human alpha globin genes occurs.
我们研究了患有常见类型α地中海贫血个体的人类α珠蛋白基因复合体的分子结构，在这种类型中，一对重复的α基因（αα）中的一个已被缺失（-α3 - 7）。对突变体的限制性图谱分析和DNA序列分析表明，不同的-α3.7染色体是至少三个独立事件的结果。在每种情况下，基因交换都发生在α1和α2基因之间完全同源的区域内。由于-α染色体可能反映了两个基因之间的交换固定和基因转换过程，它们的结构可能为人类α珠蛋白基因协同进化发生的机制提供一些见解。
