Publications by authors named "Maria Elisa Moraes"

Article Synopsis
  • The study focused on analyzing the genetic profiles of HLA-A, -B, -C, and -DRB1 genes in a group of 144 individuals from rural Quilombos in São Paulo, Brazil.
  • Researchers used PCR-SBT methods to characterize the alleles and haplotypes present in this genetically diverse population.
  • They discovered a new null allele in the HLA-C gene (designated HLA-C(∗)02:105N) in three individuals, which was linked to a specific haplotype involving HLA-A, -B, and -DRB1 genes.
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Background: Successful transfusion of platelet refractory patients is a challenge. Many potential donors are needed to sustain human leukocyte antigen matched-platelet transfusion programs because of the different types of antigens and the constant needs of these patients. For a highly mixed population such as the Brazilian population, the pool size required to provide adequate platelet support is unknown.

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Methods to impute HLA alleles based on dense single nucleotide polymorphism (SNP) data provide a valuable resource to association studies and evolutionary investigation of the MHC region. The availability of appropriate training sets is critical to the accuracy of HLA imputation, and the inclusion of samples with various ancestries is an important pre-requisite in studies of admixed populations. We assess the accuracy of HLA imputation using 1000 Genomes Project data as a training set, applying it to a highly admixed Brazilian population, the Quilombos from the state of São Paulo.

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The human leucocyte antigen (HLA) system shows extensive variation in the number and function of loci and the number of alleles present at any one locus. Allele distribution has been analysed in many populations through the course of several decades, and the implementation of molecular typing has significantly increased the level of diversity revealing that many serotypes have multiple functional variants. While the degree of diversity in many populations is equivalent and may result from functional polymorphism(s) in peptide presentation, homogeneous and heterogeneous populations present contrasting numbers of alleles and lineages at the loci with high-density expression products.

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