Diego antigen system

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Interpretation of antibody panel to detect patient antibodies towards the most relevant human blood group systems.

The Diego antigen (or blood group) system is composed of 21 blood factors or

red blood cells and, in a shortened form, in some cells in the kidney. The Diegoa antigen is fairly common in Indigenous peoples of the Americas (in both North and South America) and East Asians
, but very rare or absent in most other populations, supporting the theory that the two groups share common ancestry.

Types

The Diego system is named after a pair of types, Diegoa (Dia) and Diegob (Dib), which differ by one

transfusion reaction. Anti-Dib usually causes milder reactions.[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. Wra always expresses antigens, but the antibody reaction of Wrb depends on a variation in the structure of

transfusion reaction. Anti-Wrb is very rare, and little data is available on its severity.[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]

List of Diego antigens

List of Diego antigens
ISBT Symbol Historical name Substitution
DI1 Dia Diego a Leu 854
DI2 Dib Diego b Pro 854
DI3 Wra Wright a Lys 658
DI4 Wrb Wright b
Glu
658
DI5 Wda Waldner Val 557 Met
DI6 Rba Radelberger Pro 548 Met
DI7 WARR Warrior Thr 552 Ile
DI8 ELO
Trp
DI9 Wu Wulfsberg Gly 565 Ala
DI10 Bpa Bishop
Asn
569 Lys
DI11 Moa Moen Arg 656 Cys
DI12 Hga Hughes Tyr 555 His
DI13 Uga van Vugt Arg 646 Gln
DI14 Swa Swann Pro 561 Ser
DI15 BOW Bowyer Pro 561 Ser
DI16 NFLD Glu 429
Asp

Pro 561 Ala
DI17 Jna Nunhart Pro 566 Ser
DI18 KREP Pro 566 Ala
DI19 Tra Traversu Lys 551 Asn
DI20 Fra Froese Glu 480 Lys
DI21 SW1 Arg 646 Trp
DI22 DISK Gly 565 Ala
[1][4][5]

History

The first Diego antigen, Dia, was discovered in 1953, when a child in

blood serum from the mother. Rare blood types known at the time were eliminated, and the new type was classified as a "private" or "family" blood type. The investigators, with the agreement of the father, named the new type after his surname, "Diego". In 1955 investigators found that the Diego family included ancestry from Indigenous peoples of the Americas, and that the Diego factor (Dia) was not restricted to the Diego family, but occurred in several populations in Venezuela and elsewhere in South America. Investigators suspected that the Diego factor might be a Mongoloid trait, and tested groups of Native Americans in the United States and people of Chinese and Japanese ancestry, and found Dia in those groups. Anti-Dib was found in 1967, establishing the Diego group as a two-antigen system. 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.[1]

The Wrighta antigen (Wra), a very low frequency blood type, was also discovered in 1953. The Wrightb antigen (Wrb), a very high frequency blood type, was discovered about a decade later, but the two types were not recognized as a pair for another 20 years. The Wright group was eventually identified as a single point mutation on the SLC4A1 gene. The Wright group was subsumed into the Diego group in 1995, since its location on the SLC4A1 gene had been determined after the Diego group had been located there.[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.[2]

Distribution of the Diegoa antigen

The Dib antigen has been found in all populations tested. The Dia antigen, however, has been found only in populations of

Kaingang people of Brazil was 49% Dia+. Samples of other groups in Brazil and Venezuela were 14% to 36% Dia+.[2]

While the Dia antigen is found at moderate to high frequencies in most populations of indigenous peoples in South America, it is absent in the

Waica people, and occurs at very low frequencies in the Warao and Yaruro people of interior northern South America. Layrisse and Wilbert, who characterize these people as "Marginal Indians", proposed that they are remnants of a first migration into South America of people who had not acquired the allele for the Dia antigen, with other indigenous peoples of South America resulting from a later migration.[6]

Samples of groups in

Aleut people (the incidence of Diegoa+ in Aleuts is comparable to South American levels), it occurs at a much lower frequency (less than 0.5%) among Alaskan Eskimos and has not been found in the Inuit of Canada.[8][9][10][11]

The Dia antigen is widespread in East Asian populations. Samples of East Asian populations show 4% Dia+ for the

Koreans, 7% to 13% Dia+ for Mongolians, 10% Dia+ for northern Chinese and 3% to 5% Dia+ for southern Chinese.[1][12]

The Dia antigen is also found in northern

ethnic Malays to be a little over 1%, and in ethnic Indians (descended from southern Indians) to be a little under 1%. (A smaller sample of Malays in Penang, Malaysia, were 4% Dia+.)[12]

The Dia antigen is very rare in

The distribution of the Dia antigen has been cited as proof that the Americas were populated by migrations from Siberia. 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.[15]

References