Navegando por Palavras-chave "Pseudogenes"

Agora exibindo 1 - 2 de 2
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Investigation of pseudogenes RHD Psi and RHD -CE-D hybrid gene in D-negative blood donors by the real time PCR method
    (Elsevier B.V., 2012-12-01) Szulman, Alexandre [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Barreto, Jose Augusto [UNIFESP]; Araujo, Edward [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Introduction: the Rh system is the most polymorphic and immunogenic of all systems of blood groups. Currently more than 49 antigens were identified with five major antigens D, C, c, E. e. Knowledge of the molecular basis of the Rh system permitted the understanding of both the mechanism of Rh phenotype on the antigen variants of RHD and RHCE in Caucasians the primary mechanism of D-negative phenotype is the complete deletion of RHD gene, while the black Africans is the presence of pseudogene and gene hybrid RHD-CE (3-7)-D.Objective: To determine the prevalence gene pseudogene and hybrid gene and standardization of molecular techniques in method of Taqman on real-time PCR for RHD genotyping. Patients and methods: 203 samples of D-negative donor were used to establish and validate the effectiveness of RHD genotyping in real-time PCR using Taqman technology. the extraction was performed using a commercial kit QIAmp DNA mini kit. Samples exon 10 and 7 positive were submitted to amplification of exon 5, confirming the pseudogene RHD Psi, whereas exon 10 + exon 7 - for the hybrid gene (C) cdes and mutation C733G (Leu245Val) of the RHCE gene.Results: Twenty-five (12.3%) samples were positive, 14 amplified for both exons 10 and 7 while in 11 only for the exon 10. When extended the screening using exon 10, 7 and 5, only 06 amplified. the pseudogene was present in 07 samples (3.5%) and the hybrid RHD-CE (3-7) in 04 (1.97%), while in 177 (87.2%) of Rh negative donors were RHD gene deletion. in 07 samples not amplified for exon 3 had mutated and the mutation C733G antigen.Conclusion: the prevalence of pseudogene was 3.5% and the gene hybrid RHD-CE of 1.9%. This approach for real-time PCR as a complementary tool is technically feasible and the results of this study helped develop a new strategy for RHD genotyping. Crown Copyright (C) 2012 Published by Elsevier B.V. All rights reserved.
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Striking pseudogenization in avian phylogenetics: Numts are large and common in falcons
    (Academic Press Inc Elsevier Science, 2017) Nacer, Deborah F. [UNIFESP]; do Amaral, Fabio Raposo [UNIFESP]
    Nuclear copies of mitochondrial genes (numts) are a well-known feature of eukaryotic genomes and a concern in systematics, as they can mislead phylogenetic inferences when inadvertently used. Studies on avian numts initially based on the chicken genome suggest that numts may be uncommon and relatively short among birds. Here we ask how common numts are in falcons, based on recently sequenced genomes of the Saker falcon (Falco cherrug) and Peregrine falcon (F. peregrinus). We identified numts by BLASTN searches and then extracted CYTB, ND2 and COI sequences from them, which were then used for phylogeny inference along with several sequences from other species in Falconiformes. Our results indicate that avian numts may be much more frequent and longer than previously thought. Phylogenetic inferences revealed multiple independent nuclear insertions throughout the history of the Falconiformes, including cases of sequences available in public databases and wrongly identified as authentic mtDNA. New sequencing technologies and ongoing efforts for whole genome sequencing will provide exciting opportunities for avian numt research in the near future. (C) 2017 Elsevier Inc. All rights reserved.