Rio Grande do Norte, Brazil, voluntary bone marrow donors registry analysis.

OBJECTIVE

this study aimed to report the allele and haplotype frequencies of volunteer bone marrow donors (VBMD) from the state of Rio Grande do Norte (RN) who were enrolled in the Brazilian Volunteer Bone Marrow Donor Registry (REDOME).

METHODS

the sample comprised 12,973 VBMD who had their allele and haplotype frequencies calculated by Arlequin 3.5.1.2. A multivariate analysis of the data was obtained through a principal component analysis (PCA) and hierarchical cluster analysis (HCA) performed with SPSS 8.0.

RESULTS

the most frequent allelic group was HLA-A02, followed by -DRB113, -DRB104, -DRB107, -B44, -B35, -A24 and -DRB101. Of the 2,701 haplotypes observed, the three most frequent were HLA-A01 B08 DRB103 (1.62%), -A29 B44 DRB107 (1.56%) and -A02 B44 DRB1*04 (1.29%). These haplotypes were in linkage disequilibrium. RN allele and haplotype frequencies were very similar to those in other Brazilian states in which similar studies have been performed. The PCA revealed that RN is highly genetically similar to Caucasian populations, especially those from Iberian countries, which strongly influenced the state's ethnic composition. Africans and Amerindians also influenced the RN population structure, to a lesser extent.

CONCLUSION

the HCA reinforced the conclusion that, despite its highly admixed profile, the RN population is genetically similar to European and European-descended populations. The PCA also showed that RN cities do not contribute to the same extent to REDOME, with less populous cities being underrepresented, indicating the need to enroll more VBMD from these smaller cities to faithfully depict the state's population structure in the database.