Use este identificador para citar ou linkar para este item: https://observatorio.fm.usp.br/handle/OPI/32442
Título: SMIM1 intron 2 gene variations leading to variability in Vel antigen expression among Brazilian blood donors
Autor(es): DEZAN, Marcia ReginaCOSTA-NETO, AbelGOMES, Carolina NunesRIBEIRO, Ingrid HelenaOLIVEIRA, Valeria BritoV, Marina C. A. ConradoOLIVEIRA, Theo Gremen M.CARVALHO, Mariana L. P.ARANHA, Aline FernandaBOSI, Silvia R. A.SALLES, Nanci A.KRIEGER, Jose EduardoPEREIRA, Alexandre CostaSABINO, Ester CerdeiraROCHA, VandersonMENDRONE-JUNIOR, AlfredoDINARDO, Carla LuanaLEVI, Jose Eduardo
Parte de: BLOOD CELLS MOLECULES AND DISEASES, v.77, p.23-28, 2019
Resumo: Background: There is a significant inter-individual heterogeneity of Vel antigen expression which can lead to inaccuracies on Vel phenotyping of blood donors and, potentially, to hemolytic post-transfusion reactions. Our aim was to evaluate the impact of genetic variants in the SMIM1 intron 2 on the expression of Vel antigen among Brazilian blood donors harboring the c.64_80del17 deletion in heterozygosity. Methods: Donors presenting the SMIM1 c.64_80del17 in heterozygosity were included in the study and subjected to SMIM1 intron 2 direct sequencing aiming to genotype the following polymorphisms: rs143702418, rs1181893, rs191041962, rs6673829, rs1175550 and rs9424296. Results: SMIM1 intron 2 sequencing was performed on two hundred donors presenting one c.64_80del17 allele. The rs1175550 polymorphism significantly impacted on Vel antigen expression. Variations in the strength of agglutination on Vel phenotyping were also observed according to the rs6673829 genotype, but this difference did not persist with statistical relevance after multivariate analysis. Conclusion: The presence of the rs1175550A allele of SMIM1 is significantly and independently associated with a decrease in Vel antigen expression. Even though the population in Brazil is intensely mixed, the allele frequencies obtained in the current study were very similar to that reported for Europeans.
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Artigos e Materiais de Revistas Científicas - FM/MCM
Departamento de Clínica Médica - FM/MCM

Artigos e Materiais de Revistas Científicas - FM/MCP
Departamento de Cardio-Pneumologia - FM/MCP

Artigos e Materiais de Revistas Científicas - FM/MIP
Departamento de Moléstias Infecciosas e Parasitárias - FM/MIP

Artigos e Materiais de Revistas Científicas - HC/ICESP
Instituto do Câncer do Estado de São Paulo - HC/ICESP

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - HC/InCor
Instituto do Coração - HC/InCor

Artigos e Materiais de Revistas Científicas - IMT
Instituto de Medicina Tropical - IMT

Artigos e Materiais de Revistas Científicas - LIM/13
LIM/13 - Laboratório de Genética e Cardiologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/31
LIM/31 - Laboratório de Genética e Hematologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/46
LIM/46 - Laboratório de Parasitologia Médica

Artigos e Materiais de Revistas Científicas - LIM/52
LIM/52 - Laboratório de Virologia


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