Molecular Biology Reports, 2011

America first inhabitants and peopling are still debated. In order to increase knowledge about these questions, we have aimed to detect HLA genes of an Amerindian secluded community: Jaidukama, who lives in North Colombia Equatorial forest. HLA genotyping and extended haplotype calculations were carried out in 39 healthy individuals belonging to 13 families. HLA frequencies were compared to other Amerindians and worldwide populations by calculating genetic distances, relatedness dendrograms and correspondence analyses. Only four DRB1 alleles were found (*0404, *0407, *1402 and *1602); however a total of 17 Amerindian different extended class I–class II HLA haplotypes were directly counted from the family studies, nine of them were specific of Jaidukamas. Some of the alleles or group of alleles within an extended haplotype (i.e. DQB1–DRB1) were also found in Asians and Pacific Islanders, further supporting existence of Asian and Pacific gene flow with Amerindians or a common founder effect. It is further supported that HLA extended haplotypes vary faster than alleles in populations. It is concluded that this unique model of Amerindian secluded families study suggests that rapid HLA haplotype variation may be more important than allele variation for survival (starting immune responses). This work may also be useful for future transplant programs in the area.

– Our aim is to study the HLA-A,-B,-C,-DRB1 and-DQB1 gene frequencies in the Chimila Amerindian (Colombia) ethnic group. Results are compared with other World populations in order to obtain information about Chimila and Amerindian Health promotion, Amerindian origins and America peopling. Written consent was obtained from Chimila subjects to be included in this study. Peripheral blood was drawn and HLA DNA genotyping was carried out by standard methods. Analyses of Chimila relatedness with other Amerindians and worldwide populations was performed with a standard NJ dendrogram and correspondence analyses methodology. Chimila HLA gene profile showed to be related to that of other Amerindians groups. New complete HLA extended haplotypes were obtained. Some of them are described for the first time. Also, specific genealogical comparisons were done between Chimila Amerindians and Pacific Islanders by using specific HLA alleles. Our conclusions are: 1) These new data and HLA extended haplotypes are useful for present and future Chimila Preventive Medicine (HLA linked diseases), HLA Pharmacogenomics and transplantation regional programs, 2) Classical accepted origin of America peopling should be revised: Pacific (Asian and Austronesian) and Atlantic (European) populations gene exchange may have occurred before 1492 AD. This is confirmed by our present studies using HLA autosomic genetic markers. 3) Genetic HLA Amerindian profile is separated from that of other World populations.

Tissue Antigens, 2003

The study of the HLA variability of Native American populations revealed several alleles specific to one or more of the Latin American indigenous populations. The analysis of Amerindian groups distributed all over the continent might inform about the area of origin and the dispersal of these alleles and shed light on the evolution of this remarkable polymorphism. Moreover, HLA alleles and haplotypes are excellent markers to understand the genetic relationships between populations. For these reasons, we characterized the HLA class II polymorphism in seven South American Amerindian populations and compared the results with those previously reported for other Amerindian groups. The Guarani-Kaiowá (n ¼ 160) and Guarani-Ñ andeva (n ¼ 87) were from the Brazilian state of Mato Grosso do Sul, the Guarani-M'byá (n ¼ 93) and Kaingang (n ¼ 235) from Paraná state, the Aché (n ¼ 89) from eastern Paraguay, the Quechua (n ¼ 44) from Andean Peru. From Amazonia, a heterogeneous group was analyzed (n ¼ 45). The most frequent alleles and haplotypes are common also in other Amerindian populations. Each HLA-DRB1 allele was typically found in combination with just one DQA1-DQB1 haplotype, most likely as a result of some form of random genetic drift and reduced gene flow from non-Amerindians. The frequency distribution differed significantly among all populations, although differences were less pronounced between the Guarani subgroups. Marker alleles allowed an estimate of European and sub-Saharan African gene flow into these populations: Quechua 23%, Guarani-Ñ andeva 14%, Kaingang 7%, Guarani-M'byá 4%, Guarani-Kaiowá, Amazonia, and Aché 0%. Interestingly, the DRB1*1413 allele, previously found only among the Guarani-M'byá (frequency 15%), appeared in the Aché (8%). The relationship of the Aché to other Amerindian populations is unclear, and this finding reveals a link with the Guarani. On the basis of genetic distance and the HLA allele/haplotype set, we propose that the Aché are differentiated Tupi-Guarani group, most closely related to the Guarani-M'byá.

Human Immunology, 1997

We have characterized the DRB1 genotypes in a sample of 64 South American Indians drawn from populations in Chile, Colombia, and Ecuador. No novel DRB1 alleles were found in the total of 17 different alleles characterized, indicating that rapid allelic generation does not occur at the DRB1 loci, in contrast to HLA-B. Comparison between Chilean and Colombian/ Ecuadorian samples revealed no major differences in their allelic frequencies. In the combined Amerind sample the HLA-DRB1*0407 and HLA-DRB1*1402 alleles occurred in the highest frequencies (38% and 22%, respectively). Genetic distance measurement showed the HLA-DRB1 frequencies reported here to agree with findings in other Amerind groups. The high frequencies of both HLA-DRB1*0407 and HLA-DRB1*1602 alleles, in conjunction with their absence in Siberian samples, suggest that migratory groups other than Siberians may have been involved in the peopling of the Americas. Human Immunology 54, 74-81 (1997).

2020

Mexican Mayo Amerindians live in southern Sonora and North Sinaloa states. They probably come from North or are related to First American Inhabitants established further North. A non-related sample of them have volunteered to HLA study in order to achieve a profile useful for their epidemiology and future transplant interstate programs, in addition to ascertain ancestry and anthropological studies. HLA typing was carried out by a standard methodology. HLA-B*48 allele(s) was found, which is characteristic of Pacific Amerindians and Pacific Islanders/southern Asians. Also, HLA-A*24 (most likely HLA-A*24:02) shows specific high frequencies in this population and also in indigenous people, like Aleuts, Alaska Yupik, Japan, Taiwan, Australia, New Zealand, Papua New Guinea, southern China and other Pacific Islands. Other Andean Amerindians also show a high HLA-A*24:02 frequencies. This confirms our previous results of a possible direct gene flow between Pacific Islanders/southern Asians and Amerindians. In addition, typical Amerindian haplotypes have been found in high frequency like HLA-A*24-B*39-DRB1*04:07-DQB1*03:02, HLA-A*02-B*35-DRB1*04:07-DQB1*03:02 and HLA-A*24-B*35-DRB1*04:07-DQB1*03:02, and new haplotypes are also described like HLA-A*02-B*35-DRB1*14:06-DQB1*03:01, HLA-A*02-B*48-DRB1*04:04-DQB1*03:02, and HLA-A*02-B*08-DRB1*04:07-DQB1*03:02. This study also supports that Americas peopling was not only carried out through Bering Strait but also through Pacific and Atlantic Oceans in an earlier time than proposed

Tissue Antigens, 1997

/Several new HLA-B locus alleles have been discovered in South American Amerindians. By contrast, analysis of the MHC class I alleles of North American native populations has revealed few new HLA-B alleles. This suggests that the HLA-B locus is evolving rapidly in South American populations. Here we describe the HLA-B locus alleles present in individuals from a Central American tribe, the Kuna of Panama. Using a sequencebased typing technique that separates alleles by denaturing gradient gel electrophoresis (DGGE) followed by direct sequencing, we determined the HLA-B alleles from eight Kunas. Two of the HLA-B alleles present in the Kuna have been previously described in other South American Amerindian populations; one allele has been characterized in a Mexican-American. We characterized two new HLA-B alleles in the Kuna, HLA-B*3911 and HLA-B*5U0. HLA-B*3911 differed from HLA-B*3905 by only a single nucleotide substitution in exon 3. This substitution resulted in an amino acid replacement of leucine by arginine at residue 156 in the alpha 2 domain. Such a change may affect the repertoire of peptides that are bound by this molecule. HLA-B*5110 differed significantly from other HLA-B*51 alleles in that it is the result of an unusually large intra-locus recombination event of minimally 216 nucleotides. This recombination results in an allele that is part HLA-B*51 and part HLA-B*40. Thus, more dramatic recombination events may also play a role in the rapid evolution of the HLA-B locus in Amerindians, i

Human Immunology, 2001

Genetic variation of the Human Leukocyte Antigen region (HLA) in three Amerindian populations from the Southern Mexican state of Oaxaca, the Zapotec, Mixtec and the Mixe is examined. Individuals were typed using PCR-SSOP for four class II loci (DRB1, DQA1, DQB1, DPB1) and three class I loci (HLA-A, -B, and -C). Based on known HLA distributions, European admixture ranged from 1% to 10%. Individuals with European alleles were excluded from subsequent analysis. New alleles were revealed at each of the class I loci. In general, genotype frequencies were in Hardy-Weinberg equilibrium, although some deviations were detected. Allele frequency distributions at the DRB1, DQA1, DQB1 and HLA-A loci in all populations were more even than expected under neutrality, supporting a model of balancing selection at these loci. A history of directional selection for DPB1 in all three populations was indicated, as homozygosity values were significantly above expected values. Allele frequency distributions at HLA-B and HLA-C did not differ significantly from neutrality expectations. The data also provide evidence from linkage disequilibrium that strong haplotypic associations are present across the entire HLA region in each of the populations. Significant overall linkage disequilibrium exists between all pairs of loci typed in these populations, except those which include the DPB1 locus. These associations exist despite the fact that the recombination fraction between HLA-A, in the class I region, and DQB1, in the class II region, may exceed 0.02. One explanation is that selective pressures are maintaining the relationships between particular alleles at these loci in these populations. These relationships are maintained in general across the entire HLA region in the Oaxacan Amerindians, with the exception of DPB1.

European Journal of Immunogenetics, 1996

HLA-DPB 1 allele frequencies were investigated in seven geographically and linguistically distinct Amerindian tribes of Colombia. Allele * 130 1 was found only in the Embera tribe living along the Pacific coast, while allele *0101 was found only in two individuals of the Wayuu tribe inhabiting the Guajira desert. Significant geographical variation was observed in the other two alleles (*1401 and *0402), which were found in all seven tribal groups. The possible reasons for this restricted polymorphism and the genetic diversity found in the investigation are discussed.

Human immunology, 2018

America First Inhabitants population (Amerindians, Na Dene and Eskimos) underwent a drastic population reduction and gene exchange after Europeans and Africans arrival after 1492 AD. Barranquilla population may be a good model to study present day population admixture in South America. HLA-A, -B and -DRB1 DNA typing has been performed in 188 unrelated individuals originated in the area and speak Spanish language; they showed apparent European/African and mixed characters. HLA genetic European/African features were found and only 1.85% Amerindian one. This contrasts with neighboring Cuban population where 10% HLA Amerindian characters appear.

American journal of human genetics, 1994

PCR amplification, oligonucleotide probe typing, and sequencing were used to analyze the HLA class II loci (DRB1, DQA1, DQB1, and DPB1) of an isolated South Amerindian tribe. Here we report HLA class II variation, including the identification of a new DRB1 allele, several novel DR/DQ haplotypes, and an unusual distribution of DPB1 alleles, among the Cayapa Indians (N = 100) of Ecuador. A general reduction of HLA class II allelic variation in the Cayapa is consistent with a population bottle-neck during the colonization of the Americas. The new Cayapa DRB1 allele, DRB1*08042, which arose by a G-->T point mutation in the parental DRB1*0802, contains a novel Val codon (GTT) at position 86. The generation of DRB1*08042 (Val-86) from DRB1*0802 (Gly-86) in the Cayapa, by a different mechanism than the (GT-->TG) change in the creation of DRB1*08041 (Val-86) from DRB1*0802 in Africa, implicates selection in the convergent evolution of position 86 DR beta variants. The DRB1*08042 allel...