Summary
Detailed restriction enzyme analysis of the DNA from a Chinese female showed that one of her chromosomes had a >17.5 kb deletion of DNA, including the ψα, α2, and α1 globin genes, which is present in many Southeast Asians with an α-thalassemia-1 chromosome. Her “normal” chromosome had the expected cluster of α-like globin genes (5′-ζ-ψζ-ψα-α2-α1-3′), but the segment of DNA between the two α globin genes was elongated by some 0.5–0.7 kb. Analyses of various restriction sites suggested that this normal variant of the human α globin gene complex is due to a crossover between a normal chromosome with (αα) and a chromosome with an α-thalassemia-2 (−α3.7) and an -α2α1-hybrid gene.
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Nakatsuji, T., Landman, H. & Huisman, T.H.J. An elongated segment of DNA observed between two human α globin genes. Hum Genet 74, 368–371 (1986). https://doi.org/10.1007/BF00280487
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DOI: https://doi.org/10.1007/BF00280487