Goodbourn S E, Higgs D R, Clegg J B, Weatherall D J
Mol Biol Med. 1984 Jun;2(3):223-38.
The region between the human zeta-globin gene and the pseudo-zeta gene contains a stretch of tandemly reiterated 36 base-pair sequence elements. The structure of this locus offers the potential for unequal crossover events or slippage during replication to generate allelic variation in the length of restriction fragments spanning this region. The extent of allelic variation at this locus has been investigated in different populations at a high level of resolution. As many as ten discrete fragment lengths were observed whereas only three had been detected previously at a lower level of resolution. The linkage of alleles at this locus to closely flanking markers indicates that they are inherited as stable Mendelian traits over many generations, and therefore this and similar regions may provide highly polymorphic markers which will be of great value in genetic analysis of the human genome.
人类ζ-珠蛋白基因与假ζ基因之间的区域包含一段串联重复的36个碱基对的序列元件。该基因座的结构为复制过程中发生不等交换事件或滑动从而在跨越该区域的限制性片段长度上产生等位基因变异提供了可能性。已在不同人群中以高分辨率研究了该基因座处等位基因变异的程度。观察到多达十种不同的片段长度，而之前在较低分辨率下仅检测到三种。该基因座处的等位基因与紧密侧翼标记的连锁表明，它们作为稳定的孟德尔性状遗传了许多代，因此该区域及类似区域可能提供高度多态性的标记，这将对人类基因组的遗传分析具有重要价值。
