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Korean J Blood Transfus. 2010 Dec;21(3):230-235. Korean. Original Article.
Kim HN , Lee HJ , Choi GR , Kim MH , Kim JS , Lim CS , Kim YK , Lee KN .
Department of Laboratory Medicine, School of Medicine, Korea University, Seoul, Korea.

BACKGROUND: The cis-AB is a very rare phenotype in the ABO blood group system. It corresponds to a special ABO allele that encodes glycosyltransferase that is capable of synthesizing both A and B antigens. Until now, the exon 6 and 7 gene sequences of cis-AB alleles are well known. In this study, we report on the intron 6 sequence structure of the cis-AB allele. METHODS: Standard serologic tests for the ABO blood group phenotypes were performed in four cis-AB samples. Allele-separation by cloning and subsequent sequencing was carried out. RESULTS: The results showed that intron 6 of cis-AB is almost identical to the A101 allele except for three single nucleotide polymorphisms at nucleotide positions 163, 179 and 662, where the nucleotides of the A101 replace those of B101. CONCLUSION: The intron 6 sequences of cis-AB in Koreans have both A101 and B101 blood group sequences.

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