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The B allele with a 5·8 kb deletion in intron 1 of the ABO gene is the major allele in Japanese individuals with B m and A 1 B m phenotypes
Author(s) -
Ogasawara K.,
Miyazaki T.,
Ito S.,
Yabe R.,
Uchikawa M.,
Enomoto T.,
Yokoya N.,
Hori Y.,
Kumamoto M.,
Watanabe S.,
Satake M.
Publication year - 2018
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/vox.12642
Subject(s) - abo blood group system , allele , biology , microbiology and biotechnology , population , genetics , intron , gene , phenotype , medicine , environmental health
B m and A 1 B m phenotypes are the most frequent ABO variants in the Japanese population. The B antigen on B m red blood cells is only detectable by adsorption and elution tests, and plasma B‐transferase activity is usually detected at half or less levels compared with that of common B. Recently, a B allele lacking an erythroid cell‐specific transcription enhancer in intron 1 of the ABO gene was identified from individuals with B m and A 1 B m phenotypes, which could explain the unique serologic properties of B m . In the Japanese Red Cross Society, eight Blood Centers tested blood samples from donors throughout Japan and collected blood samples from 888 B m and 415 A 1 B m individuals. DNA analysis revealed that 1300 of 1303 (99·77%) individuals had the B allele with a 5·8 kb deletion (c.28 + 5110_10889del), which included the enhancer element.