Chapman B S, Vincent K A, Wilson A C
Genetics. 1986 Jan;112(1):79-92. doi: 10.1093/genetics/112.1.79.
Extensive restriction mapping of 76 human genomic DNAs defines multiple sites of length and point mutation near the zeta-globin locus, which codes for an embryonic alpha-like globin chain. There are two major sites of DNA length variation: one in the intergenic region with three alleles and one in the first intron of the zeta 1 gene with at least four alleles. Our mapping establishes that the intronic polymorphism is associated with a tandem array of short, repeated sequences. The length alleles occur in each of four human populations sampled, suggesting an ancient origin with persistence of several length alleles, or rapid regeneration of these particular variants. Four polymorphic restriction sites were also found; the frequency of polymorphic sites is comparable to that found in the human beta-globin gene region. Analysis of haplotypes indicates either that multiple recombinations have occurred near the 5' end of the zeta 1 gene or that this region is prone to recurrent length mutation.
对76个人类基因组DNA进行的广泛限制酶切图谱分析确定了ζ-珠蛋白基因座附近多个长度和点突变位点，该基因座编码一种胚胎型α-样珠蛋白链。有两个主要的DNA长度变异位点：一个在基因间区域，有三个等位基因；另一个在ζ1基因的第一个内含子中，至少有四个等位基因。我们的图谱分析确定内含子多态性与短重复序列的串联阵列有关。长度等位基因出现在所采样的四个人类群体中的每一个群体中，这表明其起源古老，有几个长度等位基因持续存在，或者这些特定变体迅速再生。还发现了四个多态性限制酶切位点；多态性位点的频率与在人类β-珠蛋白基因区域中发现的频率相当。单倍型分析表明，要么在ζ1基因的5'端附近发生了多次重组，要么该区域易于发生反复的长度突变。
