Hill A V, Wainscoat J S
Hum Genet. 1986 Sep;74(1):16-23. doi: 10.1007/BF00278779.
DNA analysis of the alpha- and beta-globin gene clusters has revealed substantial variability between individuals and populations. As well as restriction enzyme site and length polymorphisms, variation in gene copy number and type is observed. Because of this extensive polymorphism DNA analysis offers a highly informative method of studying genetic affinities between human populations. Haplotypes, consisting of a set of restriction enzyme polymorphisms distributed along the cluster, have been developed for both loci. Analysis of the molecular basis of numerous beta-thalassaemia alleles has revealed, in general, different sets of mutations in different populations, indicating that these postdate the racial divergence. Recent microepidemiological studies on the distribution of alpha-thalassaemia support the hypothesis that this condition, like the beta s-mutation, has been selected because it confers protection against malaria. Population-specific DNA polymorphisms at these and other loci promise to be of considerable value to genetic anthropology.
对α-和β-珠蛋白基因簇的DNA分析显示，个体和群体之间存在很大差异。除了限制性酶切位点和长度多态性外，还观察到基因拷贝数和类型的变异。由于这种广泛的多态性，DNA分析为研究人类群体之间的遗传亲缘关系提供了一种信息丰富的方法。已经针对这两个基因座开发了单倍型，其由沿着基因簇分布的一组限制性酶多态性组成。对众多β地中海贫血等位基因的分子基础分析表明，一般来说，不同群体中的突变集不同，这表明这些突变发生在种族分化之后。最近关于α地中海贫血分布的微观流行病学研究支持了这样一种假说，即这种情况与βs突变一样，之所以被选择是因为它能提供对疟疾的保护。这些基因座以及其他基因座上群体特异性的DNA多态性有望对遗传人类学具有相当大的价值。
