BACKGROUND: Determination of the molecular basis underlying the antigens in the Dombrock blood group system has shown various rearrangements between the alleles associated with DO(*) A and DO(*) B. Based on this, we employed a PCR-based strategy to screen DO alleles (DO(*) A, DO(*) B, HY(*) 1, HY(*) 2 and JO) in Brazilians. METHODS: We tested DNA of 278 Brazilian blood donors by PCR-RFLP on plates of 96 wells to determine the 793A/G (DO(*) A/DO(*) B), 323G/T (HY), 350C/T (JO) and 898C/G (HY(*) 1/HY(*) 2) single nucletide polymorphisms. In order to confirm the results sequence analysis was also performed. RESULTS: When samples of these donors were analyzed, a novel allele combination, the DO(*) A allele (793A and 323G) associated with 898G was identified and designated as DO(*) A-WL allele. This new allele encoding 300Val is the same as HY(*) 1 at nucleotide 898 on the molecular background of DO(*) A. Among the 556 alleles analyzed by PCR-RFLP, 3 were DO(*) A-WL and 78 were DO(*) B-WL. This represents an overall frequency of 0.5% for DO(*) A-WL and 14% for DO(*) B-WL across the population studied. CONCLUSION: Molecular screening of Brazilians revealed one novel allele, the DO(*) A-WL. Our data highlight the importance of testing a cohort of different populations to determine DO haplotypes and to establish reliable genotyping tests for predicting Do(a)/Do(b) status.
BACKGROUND: Determination of the molecular basis underlying the antigens in the Dombrock blood group system has shown various rearrangements between the alleles associated with DO(*) A and DO(*) B. Based on this, we employed a PCR-based strategy to screen DO alleles (DO(*) A, DO(*) B, HY(*) 1, HY(*) 2 and JO) in Brazilians. METHODS: We tested DNA of 278 Brazilian blood donors by PCR-RFLP on plates of 96 wells to determine the 793A/G (DO(*) A/DO(*) B), 323G/T (HY), 350C/T (JO) and 898C/G (HY(*) 1/HY(*) 2) single nucletide polymorphisms. In order to confirm the results sequence analysis was also performed. RESULTS: When samples of these donors were analyzed, a novel allele combination, the DO(*) A allele (793A and 323G) associated with 898G was identified and designated as DO(*) A-WL allele. This new allele encoding 300Val is the same as HY(*) 1 at nucleotide 898 on the molecular background of DO(*) A. Among the 556 alleles analyzed by PCR-RFLP, 3 were DO(*) A-WL and 78 were DO(*) B-WL. This represents an overall frequency of 0.5% for DO(*) A-WL and 14% for DO(*) B-WL across the population studied. CONCLUSION: Molecular screening of Brazilians revealed one novel allele, the DO(*) A-WL. Our data highlight the importance of testing a cohort of different populations to determine DO haplotypes and to establish reliable genotyping tests for predicting Do(a)/Do(b) status.
Authors: Fabiana Chagas Camargos Piassi; Silvana Maria Eloi Santos; Lilian Maria de Castilho; Wilson Baleotti Júnior; Rodrigo Buzinaro Suzuki; Débora Moura da Cunha Journal: Rev Bras Hematol Hemoter Date: 2013