The antigens are inherited through various alleles of the gene SLC4A1 (Solute carrier family 4), located on human chromosome 17.
[2] The Wright blood system is another pair of types, Wrighta (Wra) and Wrightb (Wrb), also differing by one amino acid on the AE1 glycoprotein and one nucleotide on the SLC4A1 gene.
[2] Seventeen other rare blood types (as of 2002) are included in the Diego antigen system, as they are produced by mutations on the SLC4A1 gene.
These include the Waldner (Wda), Redelberger (Rba), Warrior (WARR), ELO, Wulfsberg (Wu), Bishop (Bpa), Moen (Moa), Hughes (Hua), van Vugt (Vga), Swann (Swa), Bowyer (BOW), NFLD, Nunhart (Jna), KREP, Traversu (Tra), Froese (Fra) and SW1 types.
[4] The first Diego antigen, Dia, was discovered in 1953, when a child in Venezuela died of hemolytic disease three days after birth.
In 1993 the Diego pair of antigens was found to result from a single point mutation (nucleotide 2561) on what is now called the SLC4A1 gene on chromosome 17.
[2] Starting in 1995, various rare antigen types, some of which had been known for 30 years, were found to also be caused by mutations on the SLC4A1 gene, and were therefore added to the Diego system.
On the other hand, a sample of Indian students attending the University of Michigan, the majority of which were Gujarati, found none to be Dia+.
[13] The Dia antigen is very rare or absent in Aboriginal Australians, Papuans, natives of New Britain, and Polynesians.
Differences in the frequency of the antigen in populations of indigenous people in the Americas correlate with major language families, modified by environmental conditions.
[14] Another study suggests that the distribution of the Dia antigen in central and eastern Asia has been shaped by the expansion of Mongolian and related populations that resulted in the creation of the Mongol Empire in the 13th- and 14th-centuries.