RESUMO
The ancient city of Chichén Itzá in Yucatán, Mexico, was one of the largest and most influential Maya settlements during the Late and Terminal Classic periods (AD 600-1000) and it remains one of the most intensively studied archaeological sites in Mesoamerica1-4. However, many questions about the social and cultural use of its ceremonial spaces, as well as its population's genetic ties to other Mesoamerican groups, remain unanswered2. Here we present genome-wide data obtained from 64 subadult individuals dating to around AD 500-900 that were found in a subterranean mass burial near the Sacred Cenote (sinkhole) in the ceremonial centre of Chichén Itzá. Genetic analyses showed that all analysed individuals were male and several individuals were closely related, including two pairs of monozygotic twins. Twins feature prominently in Mayan and broader Mesoamerican mythology, where they embody qualities of duality among deities and heroes5, but until now they had not been identified in ancient Mayan mortuary contexts. Genetic comparison to present-day people in the region shows genetic continuity with the ancient inhabitants of Chichén Itzá, except at certain genetic loci related to human immunity, including the human leukocyte antigen complex, suggesting signals of adaptation due to infectious diseases introduced to the region during the colonial period.
Assuntos
Comportamento Ritualístico , DNA Antigo , Genoma Humano , Humanos , México , Genoma Humano/genética , Masculino , DNA Antigo/análise , História Antiga , Feminino , Sepultamento/história , Arqueologia , Gêmeos/genética , História MedievalRESUMO
BACKGROUND: Childhood cancer is one of the primary causes of disease-related death in 5- to 14-year-old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component compared with cancer in adults. Few genetic studies have been conducted on children with cancer. Additionally, Latin American populations are underrepresented in genomic studies compared with other populations. Therefore, the aim of this study is to analyze germline mutations in a group of mixed-ancestry Mexican pediatric patients with solid and hematological cancers. METHODS: We analyzed genetic variants from 40 Mexican childhood cancer patients and their relatives. DNA from saliva or blood samples was used for whole-exome sequencing. All variants were identified following GATK best practices. RESULTS: We found that six patients (15%) were carriers of germline mutations in CDKN2A, CHEK2, DICER1, FANCA, MSH6, MUTYH, NF1, and SBDS cancer predisposition genes, and additional new variants predicted to be deleterious by in silico algorithms. A population genetics analysis detected five components consistent with the demographic models assumed for modern mixed-ancestry Mexicans. CONCLUSIONS: This report identifies potential genetic risk factors and provides a better understanding of the underlying mechanisms of childhood cancer in this population.
Assuntos
Mutação em Linhagem Germinativa , Neoplasias , População Norte-Americana , Adulto , Humanos , Criança , Pré-Escolar , Adolescente , Predisposição Genética para Doença , Neoplasias/genética , Sequenciamento do Exoma , Ribonuclease III , RNA Helicases DEAD-boxRESUMO
The "human fossil" from Baradero, Buenos Aires Province, Argentina, is a collection of skeleton parts first recovered by the paleontologist Santiago Roth and further studied by the anthropologist Rudolf Martin. By the end of the nineteenth century and beginning of the twentieth century it was considered one of the oldest human skeletons from South America's southern cone. Here, we present the results of an interdisciplinary approach to study and contextualize the ancient individual remains. We discuss the context of the finding by first compiling the available evidence associated with the historical information and any previous scientific publications on this individual. Then, we conducted an osteobiographical assessment, by which we evaluated the sex, age, and overall preservation of the skeleton based on morphological features. To obtain a 3D virtual reconstruction of the skull, we performed high resolution CT-scans on selected skull fragments and the mandible. This was followed by the extraction of bone tissue and tooth samples for radiocarbon and genetic analyses, which brought only limited results due to poor preservation and possible contamination. We estimate that the individual from Baradero is a middle-aged adult male. We conclude that the revision of foundational collections with current methodological tools brings new insights and clarifies long held assumptions on the significance of samples that were recovered when archaeology was not yet professionalized.
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Takayasu's arteritis (TA) is an idiopathic great vessel vasculitis that affects the aorta and its branches. This entity is associated with the major histocompatibility complex (MHC) genes. We studied DNA sequences of human leukocyte antigens (HLA) haplotypes in one pair of Mexican monozygotic twins affected by TA. HLA alleles were determined by sequence-specific priming. Genetic testing of the HLA haplotypes in both sisters were A*02 B*39 DRB1*04 DQB1*03 : 02/A*24 B*35 DRB1*16 DQB1*03 : 01. These results confirm that within the MHC are genes that determine genetic susceptibility to develop TA and sustain genetic heterogeneity of this disease among populations.
RESUMO
Interferon-induced transmembrane (IFITM) proteins mediate protection against enveloped viruses by blocking membrane fusion at endosomes. IFITM1 and IFITM3 are crucial for protection against influenza, and various single nucleotide polymorphisms altering their function have been linked to disease susceptibility. However, bulk IFITM1 and IFITM3 mRNA expression dynamics and their correlation with clinical outcomes have not been extensively addressed in patients with respiratory infections. In this study, we evaluated the expression of IFITM1 and IFITM3 in peripheral leukocytes from healthy controls and individuals with severe pandemic influenza A(H1N1) or coronavirus disease 2019 (COVID-19). Comparisons between participants grouped according to their clinical characteristics, underlying disease, and outcomes showed that the downregulation of IFITM1 was a distinctive characteristic of severe pandemic influenza A(H1N1) that correlated with outcomes, including mortality. Conversely, increased IFITM3 expression was a common feature of severe pandemic influenza A(H1N1) and COVID-19. Using a high-dose murine model of infection, we confirmed not only the downregulation of IFITM1 but also of IFITM3 in the lungs of mice with severe influenza, as opposed to humans. Analyses in the comparative cohort also indicate the possible participation of IFITM3 in COVID-19. Our results add to the evidence supporting a protective function of IFITM proteins against viral respiratory infections in humans.
Assuntos
Antígenos de Diferenciação , COVID-19 , Influenza Humana , Proteínas de Membrana , Proteínas de Ligação a RNA , Animais , Antígenos de Diferenciação/genética , Antígenos de Diferenciação/metabolismo , COVID-19/genética , Humanos , Vírus da Influenza A Subtipo H1N1 , Influenza Humana/genética , Leucócitos/metabolismo , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Camundongos , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismoRESUMO
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of non-European ancestry. Few studies have analyzed genetic risk factors in NMOSD, and HLA class II gene variation has been associated NMOSD risk in various populations including Mexicans. Thymopoietin (TMPO) has not been tested as a candidate gene for NMOSD or other autoimmune disease, however, experimental evidence suggests this gene may be involved in negative selection of autoreactive T cells and autoimmunity. We thus investigated whether the missense TMPO variant rs17028450 (Arg630Cys, frequent in Latin America) is associated with NMOSD, and whether this variant shows an interaction with HLA-class II rs9272219, previously associated with NMOSD risk. A total of 119 Mexican NMOSD patients, 1208 controls and 357 Native Mexican individuals were included. The HLA rs9272219 "T" risk allele frequency ranged from 21 to 68%, while the rs17028450 "T" minor allele frequency was as high as 18% in Native Mexican groups. Both rs9272219 and rs17028450 were significantly associated with NMOSD risk under additive models (OR = 2.48; p = 8 × 10-10 and OR = 1.59; p = 0.0075, respectively), and a significant interaction between both variants was identified with logistic regression models (p = 0.048). Individuals bearing both risk alleles had an estimated 3.9-fold increased risk of NMOSD. To our knowledge, this is the first study reporting an association of TMPO gene variation with an autoimmune disorder and the interaction of specific susceptibility gene variants, that may contribute to the genetic architecture of NMOSD in admixed Latin American populations.
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Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10-6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10-10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.
Assuntos
Indígena Americano ou Nativo do Alasca/genética , Aquaporina 4/genética , Predisposição Genética para Doença , Antígenos HLA/genética , Neuromielite Óptica/epidemiologia , Neuromielite Óptica/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Humanos , Masculino , México/epidemiologiaRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) allele groups and alleles by PCR-SSP based typing in a total of 15,318 mixed ancestry Mexicans from all the states of the country divided into 78 sample sets, providing information regarding allelic and haplotypic frequencies and their linkage disequilibrium, as well as admixture estimates and genetic substructure. We identified the presence of 4268 unique HLA extended haplotypes across Mexico and find that the ten most frequent (HF > 1%) HLA haplotypes with significant linkage disequilibrium (Δ'≥0.1) in Mexico (accounting for 20% of the haplotypic diversity of the country) are of primarily Native American ancestry (A*02~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*08~DQB1*04, A*68~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*14~DQB1*03:01, A*24~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*04~DQB1*03:02, A*02~B*40:02~DRB1*04~DQB1*03:02, A*68~B*35~DRB1*04~DQB1*03:02, A*02~B*15:01~DRB1*04~DQB1*03:02). Admixture estimates obtained by a maximum likelihood method using HLA-A/-B/-DRB1 as genetic estimators revealed that the main genetic components in Mexico as a whole are Native American (ranging from 37.8% in the northern part of the country to 81.5% in the southeastern region) and European (ranging from 11.5% in the southeast to 62.6% in northern Mexico). African admixture ranged from 0.0 to 12.7% not following any specific pattern. We were able to detect three major immunogenetic clusters correlating with genetic diversity and differential admixture within Mexico: North, Central and Southeast, which is in accordance with previous reports using genome-wide data. Our findings provide insights into the population immunogenetic substructure of the whole country and add to the knowledge of mixed ancestry Latin American population genetics, important for disease association studies, detection of demographic signatures on population variation and improved allocation of public health resources.
Assuntos
Alelos , Genética Populacional/métodos , Antígenos HLA/genética , Complexo Principal de Histocompatibilidade/genética , Polimorfismo de Nucleotídeo Único , DNA/genética , DNA/isolamento & purificação , Frequência do Gene , Genoma Humano , Haplótipos , Humanos , Desequilíbrio de Ligação , MéxicoRESUMO
Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers in humans, with less than 5% 5-year survival rate. PDAC is characterized by a small number of recurrent mutations, including KRAS, CDKN2A, TP53, and SMAD4 and a long "tail" of infrequent mutated genes. Most of the studies have been performed in US and European populations, so new studies are needed to describe the mutational landscape of these tumors in other cohorts. The present study analyzed the exome and transcriptome of four PDAC tumors from Mexican patients. We found a paucity of the previously described recurrent mutations, with mutations in only three genes (HERC2, CNTNAP2 and HMCN1) previously reported in PDAC with a frequency > 1%. In addition, we discovered several recurrent putative copy number aberrations in SKP2, BRAF, CSSF1R, FOXE1, JAK2 and MET genes and in genes previously reported as putative drivers in PDAC, including KRAS, SF3B1, BRAF, MYC and MET. Although a larger cohort is needed to validate these findings, our results could be pointing toward potential differences in contributing factors for PDAC in Latin-American populations.
Assuntos
Biomarcadores Tumorais/genética , Carcinoma Ductal Pancreático/genética , Mutação , Neoplasias Pancreáticas/genética , Adulto , Idoso , Inibidor p16 de Quinase Dependente de Ciclina/genética , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteína Smad4/genética , Proteína Supressora de Tumor p53/genéticaRESUMO
The forced relocation of several thousand Africans during Mexico's historic period has so far been documented mostly through archival sources, which provide only sparse detail on their origins and lived experience. Here, we employ a bioarchaeological approach to explore the life history of three 16th century Africans from a mass burial at the San José de los Naturales Royal Hospital in Mexico City. Our approach draws together ancient genomic data, osteological analysis, strontium isotope data from tooth enamel, δ13C and δ15N isotope data from dentine, and ethnohistorical information to reveal unprecedented detail on their origins and health. Analyses of skeletal features, radiogenic isotopes, and genetic data from uniparental, genome-wide, and human leukocyte antigen (HLA) markers are consistent with a Sub-Saharan African origin for all three individuals. Complete genomes of Treponema pallidum sub. pertenue (causative agent of yaws) and hepatitis B virus (HBV) recovered from these individuals provide insight into their health as related to infectious disease. Phylogenetic analysis of both pathogens reveals their close relationship to strains circulating in current West African populations, lending support to their origins in this region. The further relationship between the treponemal genome retrieved and a treponemal genome previously typed in an individual from Colonial Mexico highlights the role of the transatlantic slave trade in the introduction and dissemination of pathogens into the New World. Putting together all lines of evidence, we were able to create a biological portrait of three individuals whose life stories have long been silenced by disreputable historical events.
Assuntos
DNA Antigo/análise , Pessoas Escravizadas/história , Nível de Saúde , Hepatite B/história , Bouba/história , Adulto , Arqueologia , População Negra/história , Vírus da Hepatite B/isolamento & purificação , História do Século XVI , Humanos , Masculino , México , Treponema/isolamento & purificação , Adulto JovemRESUMO
Here we studied HLA blocks and haplotypes in a group of 218 Lacandon Maya Native American using a high-resolution next generation sequencing (NGS) method. We assessed the genetic diversity of HLA class I and class II in this population, and determined the most probable ancestry of Lacandon Maya HLA class I and class II haplotypes. Importantly, this Native American group showed a high degree of both HLA homozygosity and linkage disequilibrium across the HLA region and also lower class II HLA allelic diversity than most previously reported populations (including other Native American groups). Distinctive alleles present in the Lacandon population include HLA-A*24:14 and HLA-B*40:08. Furthermore, in Lacandons we observed a high frequency of haplotypes containing the allele HLA-DRB1*04:11, a relatively frequent allele in comparison with other neighboring indigenous groups. The specific demographic history of the Lacandon population including inbreeding, as well as pathogen selection, may have elevated the frequencies of a small number of HLA class II alleles and DNA blocks. To assess the possible role of different selective pressures in determining Native American HLA diversity, we evaluated the relationship between genetic diversity at HLA-A, HLA-B and HLA-DRB1 and pathogen richness for a global dataset and for Native American populations alone. In keeping with previous studies of such relationships we included distance from Africa as a covariate. After correction for multiple comparisons we did not find any significant relationship between pathogen diversity and HLA genetic diversity (as measured by polymorphism information content) in either our global dataset or the Native American subset of the dataset. We found the expected negative relationship between genetic diversity and distance from Africa in the global dataset, but no relationship between HLA genetic diversity and distance from Africa when Native American populations were considered alone.
Assuntos
Variação Genética , Genética Populacional , Haplótipos , Antígenos de Histocompatibilidade Classe II/genética , Antígenos de Histocompatibilidade Classe I/genética , Desequilíbrio de Ligação , Adolescente , Adulto , África , Alelos , Feminino , Frequência do Gene , Genótipo , Geografia , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cadeias HLA-DRB1/genética , Homozigoto , Humanos , Masculino , México/etnologia , Pessoa de Meia-Idade , Análise de Componente Principal , Adulto Jovem , Indígena Americano ou Nativo do AlascaRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 104 Mexicans from the state of Colima living in the city of Colima (Nâ¯=â¯61) and rural communities (Nâ¯=â¯43), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Colima include eight Native American, two European and one African haplotype. Admixture estimates revealed that the main genetic components in the state are Native American (52.74⯱â¯3.88% by ML; 48.10% of Native American haplotypes) and European (37.52⯱â¯8.94% by ML; 26.66% of European haplotypes), and a relatively high African genetic component (9.74⯱â¯8.40% by ML; 11.91% of African haplotypes).
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Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 665 Mexicans from the state of Nuevo León living in the city of Monterrey (Nâ¯=â¯226) and rural communities (Nâ¯=â¯439), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Nuevo León include 12 Native American and three European haplotypes. Admixture estimates revealed that the main genetic components in the state of Nuevo León are Native American (54.53⯱â¯0.87% by ML; 48.88% of Native American haplotypes) and European (38.67⯱â¯4.06% by ML; 32.59% of European haplotypes), and a less prominent African genetic component (6.80⯱â¯4.30% by ML; 8.26% of African haplotypes).
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Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 161 Mexicans from the state of Nayarit living in Tepic (Nâ¯=â¯97) and rural communities (Nâ¯=â¯64), to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes found in the state of Nayarit include eight Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in the state of Nayarit are Native American (50.79⯱â¯5.03% by ML; 42.24% of Native American haplotypes) and European (37.04⯱â¯6.21% by ML; 35.72% of European haplotypes), while African genetic component is less apparent but relatively high (12.17⯱â¯2.50% by ML; 13.36% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 479 Mexicans from the state of Durango living in Durango city (Nâ¯=â¯153) and rural communities (Nâ¯=â¯326), to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes found in the state of Durango include eight Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in Durango are European (54.34⯱â¯1.68%) and Native American (45.66⯱â¯2.24%), while African genetic component was virtually absent (0.00⯱â¯2.03%). However, African haplotypes could be estimated at a proportion of 9.13%.
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , Reação em Cadeia da Polimerase , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 250 Mexicans from the states of Baja California Norte and Baja California Sur living in Mexicali (Nâ¯=â¯100), La Paz (Nâ¯=â¯75), Tijuana (Nâ¯=â¯25) and rural communities (Nâ¯=â¯50) to obtain information regarding allelic and haplotypic frequencies. The most frequent haplotypes for the Baja California region include nine Native American and five European haplotypes. Admixture estimates revealed that the main genetic components are European (50.45⯱â¯1.84% by ML; 42.03% of European haplotypes) and Native American (43.72⯱â¯2.36% by ML; 40.24% of Native American haplotypes), while the African genetic component was less apparent (5.83⯱â¯0.98% by ML; 9.36% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia Médica , Haplótipos , Humanos , Desequilíbrio de Ligação , México , Tipagem de Sequências MultilocusRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 286 Mexicans from the state of Sinaloa living in Culiacán (Nâ¯=â¯103) and rural communities (Nâ¯=â¯183) to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes for the state of Sinaloa include ten Native American most probable ancestry and five European most probable ancestry haplotypes. The admixture estimates revealed that the main genetic components in the state of Sinaloa are European (62.39⯱â¯3.47%) and Native American (37.61⯱â¯2.85%), while the African genetic component was estimated as virtually absent (0.00⯱â¯1.86%).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Imunogenética , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 461 Mexicans from the state of Chihuahua living in Chihuahua city (Nâ¯=â¯119), Ciudad Juárez (Nâ¯=â¯106) and rural communities (Nâ¯=â¯236), to obtain information regarding allelic and haplotypic frequencies and their linkage disequilibrium. We find that the most frequent haplotypes found in the state of Chihuahua include seven Native American and three European haplotypes. Admixture estimates revealed that the main genetic components in Chihuahua are European (52.12⯱â¯0.88% by ML; 41.53% of European haplotypes) and Native American (39.51⯱â¯2.17% by ML; 37.45% of Native American haplotypes), while African genetic component was less apparent (8.36⯱â¯1.47% by ML; 11.70% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genética Populacional/métodos , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 144 Mexicans from the state of Guerrero to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes in the state of Guerrero include eight Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in the state of Guerrero are Native American (61.36⯱â¯2.69% by ML; 54.17% of Native American haplotypes) and European (35.01⯱â¯4.59% by ML; 32.29% of European haplotypes), and a relatively low African genetic component (3.63⯱â¯2.38% by ML; 5.90% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , MéxicoRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 95 Mexicans from the state of Aguascalientes to obtain information regarding allelic and haplotypic frequencies and their linkage disequilibrium. We find that the most frequent haplotypes in the state of Aguascalientes include four Native American, three European and one Asian haplotypes. Admixture estimates revealed that the main genetic components in the state of Aguascalientes are Native American (54.53⯱â¯3.22% by ML; 44.21% of Native American haplotypes) and European (44.34⯱â¯0.45% by ML; 40.53% of European haplotypes), and a relatively low African genetic component (1.13⯱â¯2.33% by ML; 5.26% of African haplotypes).