A unique 502C>T mutation in exon 7 of ABO gene associated with the B

P.-H. Lin, L. Li, S.-J. Lin-Tsai, K.-T. Lin, J.-M. Chen, Da-Chang Chu

Research output: Contribution to journalJournal Article peer-review

Abstract

BACKGROUND: The ABO system includes many variant subgroups. Some of them are difficult to identify serologically, leading to mistyping of blood groups. For example, B<inf>el</inf> is often typed as O blood group. STUDY DESIGN AND METHODS: DNA sequencing and a molecular approach were explored to accurately determine the genotypes of B<inf>el</inf> subgroups. Seven B<inf>el</inf> blood donors and 106 individuals with other blood groups were analyzed serologically and molecularly. RESULTS: The serologic results of these seven B<inf>el</inf> blood donors showed that their RBCs do not react with anti-B or anti-A,B, and their B antigen was detected by adsorption and elution methods. Sequencing results for exons 6 and 7 of ABO genes showed a new B<inf>el</inf> allele with a C&gt;T substitution at nucleotide position 502 in exon 7 of the ABO gene in all seven cases but not in other blood groups. Consequently, an amplification-created restriction site protocol was designed to detect the 502C&gt;T genotype in B<inf>el</inf> subgroup cases. CONCLUSION: A novel 502C&gt;T mutation was found in the B<inf>el</inf> subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new B<inf>el</inf> allele that was found is unique in Taiwanese residents.
Original languageAmerican English
Pages (from-to)1254-1259
JournalTransfusion
Volume43
Issue number9
DOIs
StatePublished - 2003

Keywords

  • Immunology and Microbiology
  • Medicine

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