Produção Nacional
Molecular analysis of the GYPB gene to infer S, s, and U phenotypes in an admixed population of Minas Gerais, Brazil
2012; Elsevier BV; Volume: 34; Issue: 3 Linguagem: Inglês
10.5581/1516-8484.20120052
ISSN1806-0870
AutoresMarina Alves Faria, Marina Lobato Martins, Luciana Cayres Schmidt, Maria Clara Fernandes da Silva Malta,
Tópico(s)Erythrocyte Function and Pathophysiology
ResumoObjective: To implement genotyping for S, s and U antigens of the MNS blood group system at the Fundação Hemominas and to evaluate the occurrence of GYPB gene polymorphisms associated with the U-and U+var phenotypes and deletion of the GYPB gene for the first time in an admixed population of Minas Gerais, Brazil.The S, s and U antigens can cause transfusion reactions and perinatal hemolytic disease.Genotyping is a useful tool in immunohematology, especially when phenotyping cannot be performed.Methods: Ninety-six samples from blood donors and patients with sickle cell disease previously phenotyped for the S, s and U antigens were selected.Allele-specific primer polymerase chain reaction (ASP-PCR) and polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) assays were employed to identify the GYPB*S and GYPB*s alleles and the GYPB(P2) and GYPB(NY) variants, as well as deletion of the GYPB gene. Results:The results of allele-specific genotyping (GYPB*S and GYPB*s) were totally in agreement with the phenotyping of S+ (n = 56), s+ (n = 60) and s-(n = 35) samples.However, the GYPB*S allele, in association with the GYPB(P2) variant, was detected in 17.5% of the S-samples (n = 40), which shows the importance of assessing this variant in the Brazilian population.Of the S-s-samples (n = 10), 60% had the deletion of the GYPB gene and 40% were homozygous or hemizygous for the GYPB(P2) variant. Conclusion:Genotyping was an effective strategy to infer the S, s, and U phenotypes in the admixed population from Minas Gerais (Brazil) and may contribute to transfusion safety.
Referência(s)