Molecular analysis of Dombrock blood grou´p system in brazilian people / Caracterização molecular dosistema de grupo sanguineo Dombrock em uma população brasileira

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

Background: The molecular basis of the Doa and Dob polymorphism, are associated with three single-nucleotide polymorphisms (SNPs) on exon 2 of DO gene: 378C>T, 624T>C and 793A>G, DOA and DOB alleles, respectively. The SNPs 350OT (JO allele) and 323G>T (HY allele) are associated with: Jo(a-) and Hy-negative phenotype. Recently, two new DO alleles were identified using the microarray technology, DOB-SH (378C, 624C, 793G) and DOA-HA (378T, 624T, 793A). Although the molecular background of Dombrock system is well defined, no studies were carried out in the Brazilian population. Methods: We employed PCR-RFLP based assays and a microarray assay to determine the frequency of the DO alleles {DOA, DOB, HY1, HY2 and JO) in Brazilians. We tested DNA of 288 Brazilians people by PCR-RFLP to determine the 793A>G (DOA/DOB), 323G>T {HY), 350OT (JO) and 8980G {HY1IHY2) SNPs. We also tested DNA from 162 blood donors by the HEA Beadchip? (BioArray Solutions, USA) to determine the 3780T, 624T>C, 793A>G (DOAIDOB), 350OT (JO allele) and 323G>T (HY) SNPs. Results: Two novel alleles combinations were found in our samples: the 793G SNP (DOB allele) associated with 898G and 323G (DOB-WL) and the SNPs 378C, 624C, 793A and 323G (DOA-SH). We also found the DOB-SH and DOA-HA alleles recently reported. Conclusion: Our data demonstrate high heterogeneity of DO alleles in the Brazilian population and highlight the importance of testing a cohort of different populations to determine the DO allele combinations and establish reliable genotyping to predict the Doa/Dob antigen status

ASSUNTO(S)

genes imunoglobulinas genes antibodies antigenos antigens

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