RESUMEN

Pesticide exposure is a risk factor for the development of several diseases, including breast cancer (BC). The enzyme UGT2B7 participate in detoxification of pesticides and the presence rs7438135 (G > A) variant in your gene increases its glucuronidation potential, contributing to oxidative stress metabolites neutralization. Here we investigated the impact of occupational pesticide exposure on the systemic oxidative stress generation from 228 women with BC depending on their UGT2B7 rs7438135 (G > A) status. q-PCR investigated the presence of the rs7438135 variant, and oxidative stress markers (lipid peroxidation levels, total antioxidant capacity-TRAP, and nitric oxide metabolites-NOx) were measured in plasma. Pesticide exposure induced significant augment in the systemic lipid peroxidation in the presence of the variant for several clinicopathological conditions, including tumors with high proliferation index (ki67) and with high aggressiveness. NOx was augmented in high ki67, positive progesterone receptors, high-grade and triple-negative/Luminal B tumors, and low-risk stratified patients. TRAP was depleted in young patients at menopause and those with triple-negative/Luminal B tumors, as well as those stratified as at low risk for death and recurrence. These findings showed that the presence of the variant was not able to protect from pesticide-induced oxidative stress generation in BC patients.

Asunto(s)

Neoplasias de la Mama , Glucuronosiltransferasa , Estrés Oxidativo , Plaguicidas , Humanos , Femenino , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Estrés Oxidativo/efectos de los fármacos , Plaguicidas/toxicidad , Persona de Mediana Edad , Glucuronosiltransferasa/genética , Glucuronosiltransferasa/metabolismo , Adulto , Pronóstico , Exposición Profesional/efectos adversos , Anciano , Alelos , Peroxidación de Lípido/efectos de los fármacos , Polimorfismo de Nucleótido Simple

RESUMEN

It is heavily suggested that one IFNL4 gene polymorphism, rs12979860 (T/C), exerts influence on the outcome of HBV infection, with the rs12979860-T allele being classified as a risk predictor, and the rs12979860-C allele being classified as a protective one. This study investigated whether the rs12979860 IFNL4 gene polymorphism presented any association with the clinical severity for HBV carriers in an admixed population in Northern Brazil. A total of 69 samples were investigated from infected people from the city of Belém-Pará. The rs12979860-T allele was positively associated with HBV infection, suggesting a higher risk of chronicity. This research's importance is that the polymorphism influence was investigated in a population of HBV carriers with a heterogeneous genetic profile, formed through the extensive admixture of different ethnic groups, including Europeans, Africans, and Natives with indigenous heritage. This analysis is particularly important since highly mixed populations do not always follow the same association patterns previously established by studies using populations classified as more genetically homogeneous, due to a different formation process.

Asunto(s)

Predisposición Genética a la Enfermedad , Virus de la Hepatitis B , Hepatitis B , Interleucinas , Polimorfismo de Nucleótido Simple , Humanos , Brasil/epidemiología , Masculino , Interleucinas/genética , Femenino , Adulto , Virus de la Hepatitis B/genética , Hepatitis B/genética , Hepatitis B/virología , Persona de Mediana Edad , Alelos , Frecuencia de los Genes , Genotipo , Interferón lambda

RESUMEN

BACKGROUND: Ankylosing spondylitis (AS) is an inflammatory disease that affects the spine and can cause peripheral arthritis, enthesitis, and dactylitis, as well as extra-articular manifestations such as uveitis and inflammatory bowel disease. ß-Defensins are antimicrobial peptides involved in the activation and regulation of several immune cell types that may influence the inflammatory response in AS. The aim was to analyze the association and interaction of two functional variants of the DEFB1 gene in AS patients, and their role with inflammatory markers. METHODS AND RESULTS: The rs11362 and rs1800972 variants were genotyped using TaqMan probes in Mexican AS patients and controls. C-reactive protein (CRP) levels and erythrocyte sedimentation rate (ESR) were quantified. SPSS software was used for statistical analysis and multifactor dimensionality reduction (MDR) for interactions. The AA and GG genotypes were associated with AS risk in the age- and sex-adjusted model (OR = 6.89, P = 0.008 and OR = 3.43, P = 0.046, respectively); furthermore, the A-G haplotype showed a significant association with AS risk (OR = 2.94, P = 0.012). ESR and CRP were elevated in carriers of the AA genotype compared to the GA and GG genotypes of the rs11362 variant (20.89 ± 9.78 vs. 5.63 ± 4.61 and 4.10 ± 2.65 mm/h, P < 0.0001; and 10.92 ± 14.09 vs. 2.14 ± 2.02 and 2.15 ± 2.13 mg/L, P < 0.001, respectively). Using the MDR method, strong interactions of the rs11362 variant with sex were identified in the adjusted and unadjusted models. CONCLUSIONS: These results suggest that the DEFB1 gene may play a key role in AS pathogenesis.

Asunto(s)

Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Espondilitis Anquilosante , beta-Defensinas , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Alelos , beta-Defensinas/genética , Sedimentación Sanguínea , Proteína C-Reactiva/genética , Proteína C-Reactiva/metabolismo , Estudios de Casos y Controles , Frecuencia de los Genes/genética , Estudios de Asociación Genética , Genotipo , Haplotipos/genética , México , Espondilitis Anquilosante/genética

RESUMEN

BACKGROUND: Recent studies have suggested an association between H. pylori and metabolic-disfunction associated fatty liver disease (MASLD). However, epidemiologic studies have yielded inconsistent results. We aim to evaluate the association of H. pylori and G-allele PNPLA3 in MASLD diagnosis, and markers of severity. METHODS: A multi-center cross-sectional study was conducted. A total 224 functional dyspepsia (FD) patients cohort who underwent gastroscopy was selected. Biochemical, clinical parameters, ultrasound, FIB-4 score, LSM by VCTE, gastric biopsies, H. pylori status, and rs738409 PNPLA3 were evaluated. A second retrospective cohort of 86 patients with biopsy-proven MASLD who underwent gastroscopy with gastric biopsies was analyzed. RESULTS: In the FD cohort MASLD was observed in 52%, and H. pylori-positive in 51%. H. pylori infection was associated with MASLD prevalence, but in multivariate analyses adjusted for G-allele PNPLA3, it became not significant. Then in MASLD-only dyspeptic cohort, H. pylori infection was significantly linked to elevated serum AST levels and increased liver stiffness measurements, suggesting a potential role in liver injury and fibrosis. Histopathological analysis in biopsy-proven MASLD patients further supported these findings, showing a significant association between H. pylori infection and increased NAS score, fibrosis stage, and prevalence of MASH. Notably, the combination of H. pylori infection and G-allele PNPLA3 appeared to exacerbate MASLD severity beyond individual effects. CONCLUSIONS: Our results suggest that H. pylori infection may play a role in the progression of liver injury and fibrosis in patients with MASLD, especially in those with specific genetic predispositions.

Asunto(s)

Infecciones por Helicobacter , Helicobacter pylori , Lipasa , Proteínas de la Membrana , Humanos , Masculino , Femenino , Lipasa/genética , Proteínas de la Membrana/genética , Persona de Mediana Edad , Infecciones por Helicobacter/complicaciones , Infecciones por Helicobacter/genética , Adulto , Estudios Transversales , Estudios Retrospectivos , Hígado Graso/genética , Hígado Graso/complicaciones , Alelos , Polimorfismo de Nucleótido Simple , Dispepsia/microbiología , Dispepsia/genética , Dispepsia/complicaciones , Hígado/patología , Hígado/metabolismo , Aciltransferasas , Fosfolipasas A2 Calcio-Independiente

RESUMEN

Type 2 diabetes mellitus (T2DM) is a complex chronic disease characterized by decreased insulin secretion and the development of insulin resistance. Previous genome-wide association studies demonstrated that single-nucleotide polymorphisms (SNPs) present in genes coding for ion channels involved in insulin secretion increase the risk of developing this disease. We determined the association of 16 SNPs found in CACNA1D, KCNQ1, KCNJ11, and CACNA1E genes and the increased probability of developing T2DM. In this work, we performed a case-control study in 301 Mexican adults, including 201 cases with diabetes and 100 controls without diabetes. Our findings indicate a moderate association between T2DM and the C allele, and the C/C genotype of rs312480 within CACNA1D. The CAG haplotype surprisingly showed a protective effect, whereas the CAC and CGG haplotypes have a strong association with T2DM. The C allele and C/C genotype of rs5219 were significantly associated with diabetes. Also, an association was observed between diabetes and the A allele and the A/A genotype of rs3753737 and rs175338 in CACNA1E. The TGG and CGA haplotypes were also found to be significantly associated. The findings of this study indicate that the SNPs examined could serve as a potential diagnostic tool and contribute to the susceptibility of the Mexican population to this disease.

Asunto(s)

Canales de Calcio Tipo L , Diabetes Mellitus Tipo 2 , Predisposición Genética a la Enfermedad , Canal de Potasio KCNQ1 , Polimorfismo de Nucleótido Simple , Canales de Potasio de Rectificación Interna , Humanos , Diabetes Mellitus Tipo 2/genética , Canales de Calcio Tipo L/genética , Canal de Potasio KCNQ1/genética , Femenino , Masculino , Canales de Potasio de Rectificación Interna/genética , Persona de Mediana Edad , Estudios de Casos y Controles , Adulto , Haplotipos , Canales de Calcio Tipo R/genética , Alelos , México , Anciano , Estudios de Asociación Genética , Genotipo , Frecuencia de los Genes , Proteínas de Transporte de Catión

RESUMEN

The HLA-A*23:140 allele differs from HLA-A*23:01:01 by one nucleotide substitution (G > A), position 1968 in exon 5.

Asunto(s)

Alelos , Exones , Antígenos HLA-A , Donantes de Tejidos , Humanos , Secuencia de Bases , Médula Ósea , Trasplante de Médula Ósea , Brasil , Prueba de Histocompatibilidad , Antígenos HLA-A/genética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN/métodos , Femenino

RESUMEN

Pathogenic variants in RAD51C confer an elevated risk of breast and ovarian cancer, while individuals homozygous for specific RAD51C alleles may develop Fanconi anemia. Using saturation genome editing (SGE), we functionally assess 9,188 unique variants, including >99.5% of all possible coding sequence single-nucleotide alterations. By computing changes in variant abundance and Gaussian mixture modeling (GMM), we functionally classify 3,094 variants to be disruptive and use clinical truth sets to reveal an accuracy/concordance of variant classification >99.9%. Cell fitness was the primary assay readout allowing us to observe a phenomenon where specific missense variants exhibit distinct depletion kinetics potentially suggesting that they represent hypomorphic alleles. We further explored our exhaustive functional map, revealing critical residues on the RAD51C structure and resolving variants found in cancer-segregating kindred. Furthermore, through interrogation of UK Biobank and a large multi-center ovarian cancer cohort, we find significant associations between SGE-depleted variants and cancer diagnoses.

Asunto(s)

Proteínas de Unión al ADN , Edición Génica , Neoplasias Ováricas , Humanos , Femenino , Edición Génica/métodos , Proteínas de Unión al ADN/metabolismo , Proteínas de Unión al ADN/genética , Neoplasias Ováricas/genética , Neoplasias de la Mama/genética , Alelos , Sistemas CRISPR-Cas/genética

RESUMEN

The novel HLA-B*18:37:03 allele, first described in a potential bone marrow donor from Brazil.

Asunto(s)

Alelos , Exones , Humanos , Secuencia de Bases , Trasplante de Médula Ósea , Brasil , Prueba de Histocompatibilidad , Antígeno HLA-B18/genética , Antígeno HLA-B18/inmunología , Alineación de Secuencia , Análisis de Secuencia de ADN , Donantes de Tejidos

RESUMEN

Breast cancer (BC) is the leading cause of death from tumors in women worldwide, influenced by various factors, including genetics. The T allele of the single nucleotide variant (SNV) rs3025039 at position +936 of the VEGFA gene has been reported to affect the mRNA regulatory mechanisms, potentially altering VEGFA expression and increasing BC risk. This study aimed to investigate the association between rs3025039 and BC in Mexican women residing in Jalisco, Mexico. The study included 231 women with a confirmed diagnosis of BC and 201 healthy subjects as a reference group (RG). PCR-RFLP was employed for the genotyping of rs3025039, with the visualization of amplified products using polyacrylamide gel electrophoresis. Significant differences were observed in rs3025039 alleles and genotypes between BC cases and the RG (p = 0.0038). The frequency of the T allele and the CT genotype was higher in the BC group compared to the RG, with a significant difference (p = 0.0006). In conclusion, this research suggests that the SNV rs3025039 is associated with a higher risk of BC in Mexican women. These findings enhance our understanding of the genetic underpinnings of BC in this population, offering potential insights for future studies and interventions.

Asunto(s)

Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Genotipo , Polimorfismo de Nucleótido Simple , Factor A de Crecimiento Endotelial Vascular , Humanos , Femenino , Neoplasias de la Mama/genética , México/epidemiología , Persona de Mediana Edad , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Factores de Riesgo , Alelos , Estudios de Casos y Controles , Frecuencia de los Genes , Anciano

RESUMEN

The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity. While large groups of Caucasian and Asiatic individuals suffering from ABCA4R have been well characterized, molecular information from certain ethnic groups is limited or unavailable, precluding a more realistic knowledge of ABCA4-related mutational profile worldwide. In this study, we describe the molecular findings of a large group of 211 ABCA4R index cases from Mexico. Genotyping was performed using either next generation sequencing (NGS) of a retinal dystrophy genes panel or exome. ABCA4 targeted mutation testing was applied to a subgroup of subjects in whom founder mutations were suspected. A total of 128 different ABCA4 pathogenic variants were identified, including 22 previously unpublished variants. The most common type of genetic variation was single nucleotide substitutions which occurred in 92.7% (408/440 alleles). According to the predicted protein effect, the most frequent variant type was missense, occurring in 83.5% of disease-causing alleles (368/440). Mutations such as p.Ala1773Val are fully demonstrated as a founder effect in native inhabitants of certain regions of Mexico. This study also gives us certain indications of other founder effects that need to be further studied in the near future. This is the largest molecularly characterized ABCA4R Latin American cohort, and our results supports the value of conducting genetic screening in underrepresented populations for a better knowledge of the mutational profile leading to monogenic diseases.

Asunto(s)

Transportadoras de Casetes de Unión a ATP , Genotipo , Degeneración Retiniana , Humanos , Transportadoras de Casetes de Unión a ATP/genética , México , Masculino , Femenino , Degeneración Retiniana/genética , Niño , Mutación , Adulto , Adolescente , Persona de Mediana Edad , Secuenciación de Nucleótidos de Alto Rendimiento , Alelos , Fenotipo , Preescolar , Adulto Joven , Linaje

RESUMEN

The novel HLA-DPB1*14:01:15 allele differs from DPB1*14:01:01:01 by change of C > T in exon 3.

Asunto(s)

Alelos , Secuencia de Bases , Exones , Cadenas beta de HLA-DP , Prueba de Histocompatibilidad , Donantes de Tejidos , Humanos , Cadenas beta de HLA-DP/genética , Brasil , Análisis de Secuencia de ADN/métodos , Médula Ósea , Alineación de Secuencia , Codón , Trasplante de Médula Ósea

RESUMEN

HLA-DQB1*02:211 allele differs from DQB1*02:02:01:02 by change of C → A in exon 2.

Asunto(s)

Alelos , Exones , Cadenas beta de HLA-DQ , Donantes de Tejidos , Humanos , Cadenas beta de HLA-DQ/genética , Brasil , Prueba de Histocompatibilidad , Trasplante de Médula Ósea , Secuencia de Bases , Análisis de Secuencia de ADN/métodos , Codón , Médula Ósea

RESUMEN

The novel HLA-DQB1*06:02:62 allele, first described in an individual from Brazil.

Asunto(s)

Alelos , Exones , Cadenas beta de HLA-DQ , Humanos , Cadenas beta de HLA-DQ/genética , Análisis de Secuencia de ADN/métodos , Prueba de Histocompatibilidad/métodos , Brasil , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Codón , Secuencia de Bases

Asunto(s)

Alelos , Exones , Humanos , Ecuador , Ciudad de Nueva York , Antígeno HLA-A24/genética , Prueba de Histocompatibilidad , Secuencia de Bases , Análisis de Secuencia de ADN , Alineación de Secuencia , Codón

RESUMEN

The new HLA-DRB3*03:69 allele differs from DRB3*03:01:01:03 by change of C → G in exon 3.

Asunto(s)

Alelos , Exones , Cadenas HLA-DRB3 , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Humanos , Secuencia de Bases , Codón , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/métodos , Cadenas HLA-DRB3/genética , Alineación de Secuencia , Análisis de Secuencia de ADN/métodos

RESUMEN

Cancer is the leading cause of disease-related death among children. Vincristine (VCR), a key component of childhood cancer treatment protocols, is associated with the risk of peripheral neuropathy (PN), a condition that may be reversible upon drug discontinuation but can also leave lasting sequelae. Single nucleotide polymorphism (SNP) in genes involved in VCR pharmacokinetics and pharmacodynamics have been investigated in relation to an increased risk of PN. However, the results of these studies have been inconsistent. A retrospective cohort study was conducted to investigate the potential association of drug transporter genes from the ATP-binding cassette (ABC) family and the centrosomal protein 72 (CEP72) gene with the development of PN in 88 Caucasian children diagnosed with cancer and treated with VCR. Genotyping was performed using real-time PCR techniques for the following SNPs: ABCB1 rs1128503, ABCC1 rs246240, ABCC2 rs717620, and CEP72 rs924607. The results indicated that age at diagnosis (OR = 1.33; 95% CI = 1.07-1.75) and the ABCC1 rs246240 G allele (OR = 12.48; 95% CI = 2.26-100.42) were associated with vincristine-induced peripheral neuropathy (VIPN). No association was found between this toxicity and CEP72 rs924607. Our study provides insights that may contribute to optimizing childhood cancer therapy in the future by predicting the risk of VIPN.

Asunto(s)

Proteína 2 Asociada a Resistencia a Múltiples Medicamentos , Proteínas Asociadas a Resistencia a Múltiples Medicamentos , Neoplasias , Enfermedades del Sistema Nervioso Periférico , Polimorfismo de Nucleótido Simple , Medicina de Precisión , Vincristina , Humanos , Vincristina/efectos adversos , Vincristina/uso terapéutico , Enfermedades del Sistema Nervioso Periférico/inducido químicamente , Enfermedades del Sistema Nervioso Periférico/genética , Niño , Femenino , Masculino , Proteínas Asociadas a Resistencia a Múltiples Medicamentos/genética , Preescolar , Medicina de Precisión/métodos , Neoplasias/tratamiento farmacológico , Neoplasias/genética , Adolescente , Estudios Retrospectivos , Proteínas de Ciclo Celular/genética , Lactante , Antineoplásicos Fitogénicos/efectos adversos , Antineoplásicos Fitogénicos/uso terapéutico , Predisposición Genética a la Enfermedad , Genotipo , Alelos , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Proteínas Asociadas a Microtúbulos

RESUMEN

Ulcerative colitis (UC) is characterized by chronic inflammation of the large intestine with involvement of Th17 cells and interleukin (IL)-17A. The role of IL17A and IL17A receptor (IL17RA) variants in pathophysiology of UC still remains inconclusive. The aim was to evaluate the association between IL17A and IL17RA variants with susceptibility, IL-17A plasma levels, and endoscopic activity in UC. The study included 104 patients with UC and 213 controls. Patients were divided according to endoscopic activity (remission/mild and moderate/severe). The IL17A rs3819024 A>G and rs3819025 G>A, and IL17RA rs2241043 C>T, rs2241049 A>G, and rs6518661 G>A variants were genotyped using real time polymerase chain reaction. IL-17A plasma levels were determined using immunofluorimetric assay. Neither IL17A nor IL17RA variants were associated with UC susceptibility. The IL17A rs3819024 AG genotype was associated to high levels of IL-17 only in patients. Patients with the G allele of IL17RA rs2241049 showed 2.944 more chance of developing moderate/severe disease. The haplotype analysis showed that IL17RA rs2241049 and rs6518661 was not associated with UC susceptibility and haplotypes constituted with G allele of these variants were not associated with disease severity (p = 0.09). In conclusion, the IL17A rs3819024 AG genotype was associated with elevated IL-17A plasma levels in patients with UC but not in controls and the IL17RA rs2241049 AG+GG genotypes were associated to severity of UC. These results suggest a possible hidden interaction between the IL17A rs3819024 variant and other genetic, environmental, and epigenetic factors in the IL-17A expression that is present only in patients with UC.

Asunto(s)

Colitis Ulcerosa , Predisposición Genética a la Enfermedad , Interleucina-17 , Polimorfismo de Nucleótido Simple , Receptores de Interleucina-17 , Humanos , Interleucina-17/genética , Interleucina-17/sangre , Colitis Ulcerosa/genética , Colitis Ulcerosa/sangre , Masculino , Femenino , Receptores de Interleucina-17/genética , Adulto , Polimorfismo de Nucleótido Simple/genética , Persona de Mediana Edad , Haplotipos/genética , Genotipo , Alelos , Estudios de Casos y Controles , Índice de Severidad de la Enfermedad

RESUMEN

To investigate the potential relationship between HLA alleles and haplotypes and the age at diagnosis of type 1 diabetes (T1DAgeD) in an admixed Brazilian population. This nationwide study was conducted in public clinics across 12 Brazilian cities. We collected demographic and genetic data from 1,600 patients with T1D. DNA samples were utilised to determine genomic ancestry (GA) and perform HLA typings for DRB1, DQA1 and DQB1. We explored allele and haplotype frequencies and GA in patients grouped by T1DAgeD categories (<6 years, ≥6-<11 years, ≥11-<19 years and ≥19 years) through univariate and multivariate analyses and primary component analyses. Additionally, we considered self-reported colour-race and identified a familiar history of T1D in first-degree relatives. The homozygosity index for DRB1~DQA1~DQB1 haplotypes exhibited the highest variation among T1DAgeD groups, and the percentages of Sub-Saharan African and European ancestries showed opposite trends in principal component analysis (PCA) analyses. Regarding the association of alleles and haplotypes with T1DAgeD, risk alleles such as HLA-DQB1*03:02g, -DQA1*03:01g, -02:01g, DRB1*04:05g and -04:02g were more frequently observed in heterozygosity or homozygosity in T1D patients with an early disease onset. Conversely, alleles such as DRB1*07:01g, -13:03g, DQB1*06:02g and DQA1*02:01 were more prevalent in older T1D patients. The combination DR3/DR4.5 was significantly associated with early disease onset. However, gender, GA, familiar history of T1D and self-reported colour-race identity did not exhibit significant associations with the onset of T1D. It is worth noting that the very common risk haplotype DRB1*03:01g~DQA1*05:01g~DQB1*02:01g did not differentiate between T1DAgeD groups. In the admixed Brazilian population, the high-risk haplotype DRB1*04:05~DQA1*03:01~DQB1*03:02 was more prevalent in individuals diagnosed before 6 years of age. In contrast, the protective alleles DQA1*01:02g, DQB1*06:02g, DRB1*07:01g and DRB1*13:03g and haplotypes DRB1*13:03g~DQA1*05:01g~DQB1*03:01g and DRB1*16:02g~DQA1*01:02g~DQB1*05:02g were more frequently observed in patients diagnosed in adulthood. Notably, these associations were independent of factors such as sex, economic status, GA, familiar history of T1D and region of birth in Brazil. These alleles and haplotypes contribute to our understanding of the disease onset heterogeneity and may have implications for early interventions when detected in association with well-known genomic risk or protection factors for T1D.

Asunto(s)

Alelos , Diabetes Mellitus Tipo 1 , Frecuencia de los Genes , Haplotipos , Humanos , Brasil/epidemiología , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/diagnóstico , Masculino , Femenino , Niño , Adolescente , Adulto , Preescolar , Adulto Joven , Predisposición Genética a la Enfermedad , Cadenas HLA-DRB1/genética , Cadenas alfa de HLA-DQ/genética , Cadenas beta de HLA-DQ/genética , Edad de Inicio , Lactante , Persona de Mediana Edad

RESUMEN

The novel HLA-C*01:273 allele, first described in a potential bone marrow donor from Brazil.

Asunto(s)

Alelos , Exones , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Brasil , Prueba de Histocompatibilidad , Secuencia de Bases , Donantes de Tejidos , Análisis de Secuencia de ADN/métodos , Alineación de Secuencia , Codón

RESUMEN

Non-classical HLA-G*01:46 differs from G*01:01:03:03 at one position in exon 3.

Asunto(s)

Alelos , Exones , Antígenos HLA-G , Humanos , Antígenos HLA-G/genética , Brasil , Prueba de Histocompatibilidad , Secuencia de Bases , Análisis de Secuencia de ADN/métodos