Assuntos
Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/terapia , Proteína-Tirosina Quinase ZAP-70/deficiência , Anti-Inflamatórios/uso terapêutico , Tratamento de Emergência , Humanos , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/patologia , Lactente , Masculino , Prednisolona/uso terapêutico , Doenças da Imunodeficiência Primária , Quimeras de Transplante , Proteína-Tirosina Quinase ZAP-70/genética , Proteína-Tirosina Quinase ZAP-70/imunologiaRESUMO
The HLA allele frequency distribution of the Mexican Teenek Indians has been studied and compared with those of other First American Natives and worldwide populations (a total of 15694 chromosomes from 73 different populations were analyzed). This study corroborate the restricted HLA polymorphism in the Amerindian populations and demonstrate how the Amerindians show a relatively homogeneity as opposed to other First Native American groups. Finally, the present data support previous ones that state the lack of complete correlation between language and genetics in micro-environmental studies; Teenek Mayan language does not correspond with a close Mayan (Guatemala) relatedness.
Assuntos
Cromossomos Humanos/genética , Antígenos de Histocompatibilidade Classe II/genética , Antígenos de Histocompatibilidade Classe I/genética , Indígenas Sul-Americanos/genética , População/genética , Alelos , Frequência do Gene , Humanos , Indígenas Sul-Americanos/classificação , FilogeniaRESUMO
The aim of this study was to investigate whether the promoter's polymorphisms at the TNF alpha (TNF-alpha) gene were associated with the genetic susceptibility to Chagas' disease. We analyzed the TNF-alpha (positions -308, and -238) polymorphisms in a sample of 54 serologically positive chagasic individuals and in 169 healthy controls. The patients were divided according to clinical characteristics as asymptomatics (n = 27), and chronic chagasic cardiopathy (CCC) patients (n = 27). The whole group of patients showed increased frequencies of -308 T2 (A) allele when compared to healthy controls (pC = 0.008, OR = 3.03). When the analysis was carried out separately in asymptomatic and CCC patients, increased frequencies of T2 (A) allele and T1T2 (AG) genotype in the group of patients with CCC were found when compared to asymptomatic individuals (pC = 0.0002 and pC = 0.003, respectively) and healthy controls (pC = 4 x 10(-7), OR = 7.02, and pC = 0.0006, OR = 5.29, respectively). The present study demonstrates that Chagas' disease is associated with TNF-alpha polymorphisms in the Mexican population. The TNF-308 T2 allele could be directly involved in the genetic susceptibility to the chronic phase of the disease.
Assuntos
Doença de Chagas/genética , Predisposição Genética para Doença , Regiões Promotoras Genéticas , Fator de Necrose Tumoral alfa/genética , Animais , Cardiomiopatia Chagásica/genética , Cardiomiopatia Chagásica/metabolismo , Doença de Chagas/metabolismo , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , México , Pessoa de Meia-Idade , Polimorfismo Genético , Trypanosoma cruzi/metabolismo , Fator de Necrose Tumoral alfa/metabolismoRESUMO
Takayasu's Arteritis (TA) has been associated with the Major Histocompatibility Complex (MHC) genes; nevertheless, results in several populations have been heterogeneous. Studies both in Mexican and Asian populations suggest that residues at positions 63 (glutamic acid) and 67 (serine) of the HLA-B molecule could be the genetic markers for TA. In the present work, we analyzed the sequence of HLA-B alleles in 26 TA patients and 62 healthy controls. HLA-B subtyping analysis showed that all B52 alleles were B*5201, whereas only one HLA-B39 allele was B*3902. Sequencing of HLA-B alleles showed that 19 out of 26 patients studied (73.0%) presented at least an allele with glutamic acid at position 63 and serine at position 67. This condition was observed in only 21.0% of the healthy controls (pC = 0.00001, OR = 10.23). Out of the seven remaining patients, one presented glutamic acid at position 63 and four showed serine at position 67. Two patients (2/26 = 7.7%) and 24 healthy controls (24/62 = 38.7%) did not show similarity at the mentioned positions (pC = 0.016, OR = 0.13). These data corroborate the participation of positions 63 and 67 in the genetic susceptibility to TA and explain the high heterogeneity of alleles associated with the disease in several populations.
Assuntos
Antígenos HLA-B/genética , Arterite de Takayasu/genética , Alelos , Substituição de Aminoácidos/genética , Feminino , Frequência do Gene , Marcadores Genéticos , Predisposição Genética para Doença , Ácido Glutâmico/genética , Humanos , Masculino , México , Serina/genética , Arterite de Takayasu/diagnósticoRESUMO
Matrix gamma-carboxyglutamic acid protein (MGP) genotypes (G-7A and T-138C) were determined in 266 individuals from three Mexican populations. Mexicans showed increased frequencies of the G-7A G allele and the G7-A GG genotype compared to Europeans. For the T-138C genotype, we found differences among the Mexicans. This study could help to define the significance of MGP polymorphisms as genetic markers in Amerindian populations.