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Core haplotype frequency

Figure 10.2 Examples of haplotype bifurcation diagrams at the G6PD locus. (A) Data from pooled African populations illustrates how a specific haplotype (G6PD core haplotype 8, G6PD-CH8) has an unexpectedly high degree of extended haplotype homozygosity (EHH) given the allele frequency. (B) Relative EHH was assessed over distance from the core region in which the haplotypes were defined; for the most distant SNP analysed (some 413 kb proximal to G6PD) relative EHH versus allele frequency is shown for the eight core haplotypes, indicated as black diamonds. G6PD-CH8 had a much higher EHH than haplotypes of comparable frequency (extensive simulations were performed to assess significance, shown in light grey). Reprinted by permission from Macmillan Publishers Ltd: Nature (Sabeti etal. 2002a), copyright 2002.

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