Research Article

Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles

Table 2

Minor haplotypes which were not included in the phylogenetic network constructed by 11pop_data_2.

Haplotype (possible haplogroup)Number of sequencesEstimated cause (recombination point and its parental haplotypes*)

n (A101-A201-O09/O47)5Recombination event (b, 22–26, r)
q (O02/O47)11Recombination event (e, 26–28, w)
t (B101/A101-A201-O09)6Recombination event (f, 19–24, a/b/m)
u (B101/A101-A201-O09)5Recombination event (f, 2-3, a)
x (O01/A101-A201-O09)4Recombination event (g/h, 22–26, a/b/m)
y (B101/O02)13Recombination event (f, 7-8, e)
aa (O01/O02)5Recombination event (g/h, 25–27, c/d/e)
ab (B101 with O01)4Gene conversion (26–29 of g/h/i was converted into f)
ac (A101-A201-O09-O01/O47)6Recombination event and one nucleotide substitution (a/b/g/h, 10–14, r, and 1 substitution)
af (B101)3Recombination event (a/b/c/d/e/g/h/i/j/k/l/m, 2-3, f)
ag (O02/A101-A201-O09)7Recombination event (d/e, 20–23, a/b/m)
ai (A101-A201-O09-O01/O02)7Recombination event (a/b/g/h, 13-14, j)
ah (O47/B101)7Recombination event and one nucleotide substitution (p/r/w, 8–14, f, and 1 substitution)

 *For example, haplotype q is a recombinant between e (forward) and w (backward) between sites 26 and 28.