Figure 1

Diversity comparison. In panels A-E, the frequency of each sequence type is presented. “*” indicates that the difference is significant. Panel F shows that all the genotypes differed significantly between the two regions. The paired code name and type annotation listed in the legend for each genotype was used in the rest of this article, including in the description of genotypes and the identification of genotypes for association rules. (A) HBA1: hemoglobin, alpha 1. A100 = normal, A101 = c.95 + 1G > A, A102 = c.98T > A. (B) HBA2: hemoglobin, alpha 2. A200 = normal, A201 = c.427T > C (het), A202 = c.369C > G (het), A203 = c.369C > G (hom), A204 = c.1delA (hom), A205 = c.427T > C (hom), A206 = c.377T > C (hom). (C) HBA_CNV: hemoglobin, alpha, copy number variation. AC00 = normal, AC01 = αα/−α^3.7, AC02 = αα/ −α^3.7(α1 and α2 fusion after deletion in another chain), AC03 = αα/–^SEA, AC04 = αα/−α^4.2, AC05 = −α^3.7/= ^SEA, AC06 = −α^3.7/−α^3.7, AC07 = αα/ααα. (D) HBB: hemoglobin, beta. B00 = normal, B01 = c.79G > A (het), B02 = c.217dupA (het), B03 = c.126_129delCTTT (het), B04 = c.52A > T (het), B05 = c.316-238C > T (het), B06 = c.79G > A (hom), B07 = c.380T > G (het), B08 = c.410G > A (het), B09 = c.126delC (het), B10 = c.92 + 1G > T (het). (E) HBB_CNV: hemoglobin, beta, copy number variation. BC00 = normal, BC01 = 1-HBB. Here, “het” and “hom” denote heterozygote and homozygote. The details of the code names can be seen in S2_Table.xls. (F) Each genotype is a combination of sequence types, and every combination is described with the involved sequence types. Genotype 1 = A100, A203, AC03, B00, BC00; Genotype 2 = A100, A202, AC00, B00, BC00; Genotype 3 = A100, A200, AC04, B00, BC00; Genotype 4 = A100, A200, AC03, B00, BC00; Genotype 5 = A100, A200, AC01, B01, BC00; Genotype 6 = A100, A200, AC01, B00, BC00; Genotype 7 = A100, A200, AC00, B04, BC00; Genotype 8 = A100, A200, AC00, B03, BC00; Genotype 9 = A100, A200, AC00, B01, BC00.