Association of ABO gene mutations resulting in a rare B subgroup |
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Authors: | Sousa N Anicchino-Bizzacchi J M Leite E M Locatelli M F Albuquerque D Costa F F Barjas-Castro M L |
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Institution: | Departamento de Farmacologia, FCM, State University of Campinas, 13083-970 Campinas, Brazil. |
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Abstract: | 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 O allele with the sequence of O02. CONCLUSIONS: It is probable that the presence in exon 7 of some of the O02 substitutions could have weakened the enzymatic activity of the encoded B transferase. |
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Keywords: | ABO B subgroup blood group genotyping molecular biology |
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