Association of ABO gene mutations resulting in a rare B subgroup
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Data
2005-01-01
Autores
Sousa, N.
Anicchino-Bizzacchi, J. M.
Leite, E. M.
Locatelli, M. F.
Albuquerque, D.
Costa, F. F.
Castro, M. L.
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Título de Volume
Editor
Blackwell Publishing
Resumo
Background and Objectives B subgroups are rare and the genetic analysis reported to date has been limited.Materials and Methods Serological and molecular investigations were performed in blood from a B-subgroup donor.Results Red cells did not react with anti-B and anti-AB reagents. However, cells absorbed anti-B. Red cells presented positive reactions with anti-H, and saliva secreted H substance. The molecular study demonstrated a B allele with the substitutions 467C>T, 646T>A, 681G>A, 771C>T, 796C>A, 803G>C, 829G>A and an 0 allele with the sequence of 002.Conclusions It is probable that the presence in exon 7 of some of the 002 substitutions could have weakened the enzymatic activity of the encoded B transferase.
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Palavras-chave
ABO, B subgroup, blood group, genotyping, molecular biology
Como citar
Vox Sanguinis. Oxford: Blackwell Publishing Ltd, v. 88, n. 1, p. 31-34, 2005.