title: Distribution of the FYBES and RHCE*ce(733C>G) alleles in an Argentinean population: implications for transfusion medicine.
abstract: BACKGROUND
  The understanding of the molecular bases of blood groups makes possible the identification of red cell antigens and antibodies using molecular approaches, especially when haemagglutination is of limited value. The practical application of DNA typing requires the analysis of the polymorphism and allele distribution of the blood group genes under study since genetic variability was observed among different ethnic groups. Urban populations of Argentina are assumed to have a white Caucasian European genetic component. However, historical and biological data account for the influence of other ethnic groups. In this work we analyse FY and RH blood group alleles attributed to Africans and that could have clinical implications in the immune destruction of erythrocytes.
  
  
  METHODS
  We studied 103 white trios (father, mother and child, 309 samples) from the city of Rosario by allele specific PCRs and serological methods. The data obtained were analysed with the appropriate statistical test considering only fathers and mothers (n = 206).
  
  
  RESULTS
  We found the presence of the FY*BES and RHCE*ce(733C>G) alleles and an elevated frequency (0.0583) for the Dce haplotype. The number of individuals with a concomitant occurrence of both alleles was significantly higher than that expected by chance. We found that 4.68% of the present gene pool is composed by alleles primarily associated with African ancestry and about 10% of the individuals carried at least one RH or FY allele that is predominantly observed among African populations. Thirteen percent of Fy(b-) subjects were FY*A/FY*BES.
  
  
  CONCLUSIONS
  Taken together, the results suggest that admixture events between African slaves and European immigrants at the beginning of the 20th century made the physical characteristics of black Africans to be invisible nowadays. Considering that it was a recent historical event, the FY*BES and RHCE*ce(733C>G) alleles did not have time to become widespread but remain concentrated within families. These findings have considerable impact for typing and transfusion strategy in our population, increasing the pool of compatible units for Fy(b-) individuals requiring chronic transfusion. Possible difficulties in transfusion therapy and in genotyping could be anticipated and appropriately improved strategies devised, allowing a better management of the alloimmunization in the blood bank.
authors.affiliation: Laboratorio de Inmunohematología e Inmunogenética, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Suipacha 531, 2000 Rosario, Argentina. ccotorru@fbioyf.unr.edu.ar
authors.forename: Carlos M
authors.initials: CM
authors.lastname: Cotorruelo
authors.forename: Silvana V
authors.initials: SV
authors.lastname: Fiori
authors.forename: Silvia E García
authors.initials: SE
authors.lastname: Borrás
authors.forename: Liliana L
authors.initials: LL
authors.lastname: Racca
authors.forename: Claudia S
authors.initials: CS
authors.lastname: Biondi
authors.forename: Amelia L
authors.initials: AL
authors.lastname: Racca
mesh_terms: D000328:Adult; D000483:Alleles; D001118:Argentina; D044383:Black People / Q000235:genetics; D001787:Blood Group Incompatibility / Q000235:genetics* / Q000517:prevention & control; D002648:Child; D017931:DNA Primers; D004375:Duffy Blood-Group System / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012203:Rh Isoimmunization / Q000235:genetics / Q000517:prevention & control; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D065227:Transfusion Reaction; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D004375:Duffy Blood-Group System; D012204:Rh-Hr Blood-Group System