The Registries of Bone Marrow Donors around the world include more than 30 million volunteer donors from 57 different countries, and were responsible for over 17,000 hematopoietic stem cell transplants in 2016. The Brazilian Bone Marrow Volunteer Donor Registry (REDOME) was established in 1993 and is the third largest registry in the world with more than 4.3 million donors. We characterized HLA allele and haplotypes frequencies from REDOME comparing them with the donor self-reported race group classification. Five-locus haplotype frequencies (A~C~B~DRB1~DQB1) were estimated for each of the six race groups, resolving phase and allelic ambiguity using the expectation-maximization (EM) algorithm. The top 100 haplotypes in the race groups were separated into eight clusters of haplotypes, based on haplotype similarity, using CLUTO. We present HLA allele and haplotype frequency data from six race groups from 2,938,259 individuals from REDOME. The most frequent haplotype was the same for all groups: A*01:01g~C*07:01g~B*08:01g~DRB1*03:01g~DQB1*02:01g. Some frequent haplotypes such as A*02:01g~C*16:01g~B*44:03~DRB1*07:01g~DQB1*02:01g was not found in people with Preta (Sub-Saharan African descent). A cluster including Branca (European) and Parda or non-informed (admixed) could be distinguished from both Preta (SubSaharan) and Indígena (Amerindian) groups, and from the Amarela (Asian) ones, which clustered with their original population. These results have implications on cross-population matching and can help in donor searches and population-based recruitment strategies.
Dengue is an infectious disease of viral etiology transmitted by the mosquitoes
in a lower frequency in chronic patients than in individuals with P = 0.079; OR = 0.40;. In chronic patients with histological alterations it was not observed the genotype TGFB1+869 C/C, against 24.4% in the self limited infection group (100 versus 75.6%; P = 0.096; OR = 7.67; . Further studies in other populations, and evaluation of a greater number of individuals could contribute for a better understanding of the cytokine genetic polymorphism influence in HBV infection evolution. Key words: cytokine gene polymorphism -hepatitis B -genetic associationThe infection by the hepatitis B virus (HBV) appears under different forms of evolution, ranging from the asymptomatic and self-limited infection to the chronic state, which can develop into chronic hepatitis, cirrhosis, and hepatic-cellular carcinoma (Thomas & Strickland 2000). It is estimated that the virus infected 350 million people in the whole world, forming a reservoir which facilitates the spreading of the disease (Kane 1995). Furthermore, in spite of the transmission reduction after the vaccination advent (Shih et al. 1999, BerliozArthaud et al. 2003, the infection remains as an important cause of chronic hepatic disease (Thomas & Strickland 2000).The Health Ministry estimates that 1% of the Brazilian population has chronic diseases related to HBV (Ministério da Saúde 2003, Ferreira 2004. The factors that lead a patient with acute infection by HBV to become persistently infected are not totally established. Environmental factors as well as factors innate to the virus do not completely explain the different forms of the HBV infection evolution (Chu & Lok 2002, Kao et al. 2002, bringing up a discussion of the implication of genetic factors in disease evolution (Thio et al. 1999, Thursz 2001.The initial anti-HBV immune response promotes the killing of infected cells by the virus and the secretion of antiviral cytokines by cells of the innate immunity (Ferrari et al. 2003). However, the infection control is not reached at this stage of HBV response. A vigorous and polyclonal immune response of T cells is pointed out as fundamental for the virus elimination and disease resolution (Guidotti et al. 1999). The well-successful response to HBV is a result of both specific anti-virus cytotoxic T-cells activity, which eliminates the infected cells, and non-cytolitic mechanisms exerted through cytokines released by T and non-T cell infiltrates. The cytokines are able to suppress the viral expression and replication, mediating the infection control without causing death of the infected cell. The evolution of the infection to chronicity is associated to a weak or undetectable humoral immune response, and is identified by the persistency of HBV's surface antigen (HBsAg) in the circulation (Jung & Pape 2002, Ferrari et al. 2003.Several studies have evaluated the influence of genetic factors in the cytokine production by cells of the immune system. The genetic polymorphism was pointed out because it correlates to both the transcription level and in vitro production of tu...
BackgroundAlloimmunization is a major problem in transfusion practice due to the clinical complications of the patients and the difficulty of choosing a unit of compatible blood product. Serological methods are widely used in blood banks, but they not always determine the phenotype. Thus, genotyping is an important complement to the serology tool as it allows one to predict the phenotype from deoxyribonucleic acid (DNA) with high accuracy.ObjectiveTo compare the centrifugation gel, microarray, Restriction Fragment Length Polymorphismone PCR (PCR-RFLP) and Sequence-Specific Primer PCR (PCR-SSP) techniques, in terms of cost, reaction time and reliability of the results.MethodsThe RHCE, Kidd, Kell and Duffy blood group systems were chosen to determine the approximate cost of each technique, considering the reagents used in both methods and considering only one sample. The time required for the development of each reaction was obtained at the Maringa Regional Blood Center and Immunogenetics Laboratory at the State University of Maringa. Data from Microarray reactions were obtained at the Campinas Blood Center. The results of phenotyping and genotyping of the 16 samples were compiled in a spreadsheet and compared.ResultsThe PCR-SSP was more economical compared to other methods, and the serological method was faster than the molecular methods. However, all methods proved to be effective and safe in the detection of erythrocyte antigens.ConclusionAnalyzing the advantages and limitations of the molecular and serological methods tested in this study, we note that both are important and complementary. However, the choice of a methodology depends on the reality and needs of each health service.
The pathogenesis of periodontitis (PD) involves several molecules of the immune system that interact in a network to eliminate the periodontopathogens, yet, they contribute to periodontal tissue destruction. The different mechanisms that lead to periodontal tissue damage are not clear. Despite this, immune response genes have been related to the development of PD previously, such as those involved in inflammasomes which are multiprotein complexes and cytokines including Interleukin-1. The aim of the study was to evaluate the polymorphisms in NLRP3 inflammasome, cytokine and receptor of cytokines genes in the development of periodontitis. This case-control study was conducted in 186 patients with PD (stage II and III and grade B) and 208 controls (localized gingivitis and periodontally healthy individuals). Genotyping was performed using PCR-RFLP for the SNP rs4612666 in NLRP3 and using PCR-SSP for IL1A,
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