SMIM1 intron 2 gene variations leading to variability in Vel antigen expression among Brazilian blood donors

Dezan, Marcia Regina; Costa-Neto, Abel; Gomes, Carolina; Ribeiro, Ingrid Helena; Oliveira, Vítor Hugo de; Conrado, Marina C. A. V.; Oliveira, Théo Gremen Mimary de; Carvalho, Mariana; Aranha, Aline Fernanda; Bosi, Silvia; Salles, Nanci Alves; Krieger, José Eduardo; Pereira, Alexandre C.; Sabino, Éster Cerdeira; Rocha, Vanderson; Mendrone‐Júnior, Alfredo; Dinardo, Carla Luana; Levi, José Eduardo

doi:10.1016/j.bcmd.2019.03.006

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“…Correlação entre os níveis de expressão do antígeno de Vel e as variantes SMIM1 Intron 2 (rs143702418, rs1181893, rs191041962, rs6673829, rs1175550 e rs9424296)29 em 112 doadores de sangue com a presença da deleção c.64_80del17. O eixo vertical do gráfico mostra os níveis de expressão do antígeno Vel e o eixo horizontal mostra o genótipo das variantes de SMIM1 Intron 2.…”

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Sistema Vel: triagem molecular utilizando DNA obtido de pools de plasma de doadores de sangue

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Serologic methods to determine the Vel-phenotype require the use of rare human antisera and do not allow for many samples to be tested simultaneously, which limits their application as a tool to search for rare donors. This study developed a low-cost molecular screening strategy using the real-time polymerase chain reaction (PCR) with DNA extracted from plasma pools used for viral nucleic acid test (NAT) screening, to identify Vel-and Vel+ W donors. A total of 25,322 blood donors from the Brazilian southeast region were genotyped through real-time PCR targeting the 17-nucleotide (c.64_80del17) deletion in the SMIM1 gene, which determines the Vel-phenotype, by using leftover nucleic acid from plasma pools of six donors, routinely discarded after the release of viral NAT results. One hundred and eighty eight from 4,220 pools tested were reactive. The SMIM1*64_80del17 deletion was present in 210 donors, 208 (0.4%) in heterozygosity and only 2 in homozygosis (0.008%). The DNA pool genotyping strategy using real-time PCR designed to detect the deletion in the SMIM1 gene proved effective and accurate in identifying donors with the Vel-and Vel+ W phenotypes. The fact that residual nucleic acid from routine viral NAT screening was successfully employed renders this technique economically attractive and definitely superior to the serologic techniques available to search for this rare phenotype.

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Sistema Vel: triagem molecular utilizando DNA obtido de pools de plasma de doadores de sangue

Dezan¹

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SMIM1 intron 2 gene variations leading to variability in Vel antigen expression among Brazilian blood donors

Cited by 1 publication

References 11 publications

Sistema Vel: triagem molecular utilizando DNA obtido de pools de plasma de doadores de sangue

Sistema Vel: triagem molecular utilizando DNA obtido de pools de plasma de doadores de sangue

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