AB0 genotyping in Italian blood donors

A. Villa, F. Drago, R. Misto, F. Morelati, F. Poli, G. Sirchia

Research output: Contribution to journalArticlepeer-review


Background. Traditional AB0 blood group serology is based on the immunoreactivity of antisera with the carbohydrate A, B and H antigens. Progress in the molecular biology of the AB0 system has recognized the molecular basis of the red cell (RBC) antigens and has provided a genetic model for AB0 polymorphism at the molecular level. Recently, this genetic model was tested in a large number of individuals. Materials and Methods. In this study we applied DNA analysis to determine the frequency of AB0 genotypes in a group of blood donors for whom the AB0 type was known. Two hundred and fifty healthy Italian blood donors were analyzed using polymerase chain reaction (PCR) to amplify two different regions of genomic DNA, each of which contained a different nucleotide polymorphism. The amplified product was digested with 4 restriction enzymes that revealed differences among A, B and 0 individuals. To analyze the genes at polymorphic sites 261 and 703 we used the restriction enzymes BstE II and Kpn I, and Hpa II and Alu I and compared the PCR determined genotypes to serologically determined phenotypes. Results and Conclusions. The results were consistent for all unrelated individuals; however, 2 of 100 individuals with the 0 phenotype carried one allele that differed from the proposed genetic model. This novel 0 allele, termed 02 by Yamamoto et al., was found in our series with a frequency of 1%. The blood group AB0 genotype of 250 healthy Italian blood donors was: 13 AA/A02, 37 A01, 11 BB, 39 B01, 50 AB, 98 0101 and 2 0102. This method should be applicable not only in forensic medicine but also in immunohematology when serology fails.

Original languageEnglish
Pages (from-to)492-496
Number of pages5
Issue number6
Publication statusPublished - 1996


  • ABO system
  • Antigen
  • Forensic DNA analysis
  • Polymerase chain reaction

ASJC Scopus subject areas

  • Hematology


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