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. 2021 Sep 22;5:287. Originally published 2020 Dec 9. [Version 2] doi: 10.12688/wellcomeopenres.16320.2

Figure 1. Schematic of the HBA region on human chromosome 16.

Figure 1.

A: Representation of human chromosome 16 showing the location of the HBA gene region at the p-telomere end (red box). B: The 400kb chromosome region spanned by the SNPs used in this study (16:83,000-400,000) approximately centres around the HBA gene region (red box). C: Chromosome 16:200000-235000 spanning the classical HBA gene region, comprising HBZ [ζ2], HBZP1 [ψζ1], HBM [ψα1], HBA2 [α2], HBA1 [α1] and HBQ1 [θ1]. The -α -3.7I deletion is highlighted between HBA1 and HBA2. D: HBA1 and HBA2 genes showing the location of the primers used for genotyping and Sanger sequencing (see methods and Extended Data); the region of the -α -3.7I deletion; and 15 bases/features that show paralogous differences in the human reference genome between HBA1 and HBA2 sequences and used to identify the -α -3.7 Type I breakpoint (Extended Data).