Molecular analysis of the GYPB gene to infer S, s, and U phenotypes in an admixed population of Minas Gerais, Brazil.

Objective: 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.