A novel mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a blood donor with the Am B phenotype.

Abstract:

:The Am and Bm phenotypes are characterized by weak expression of the A or B antigens, respectively, by red blood cells with a normal expression by the saliva of secretors. Deletion of the regulatory element in the first intron of the ABO gene and disruption of the GATA motif in the element were found to be responsible. In this study, we identified a novel mutation within the GATA motif (G>C substitution at position c.28 + 5830) in the regulatory element of the A allele that might diminish transcription activity causing the generation of the Am B phenotype.

journal_name

Vox Sang

journal_title

Vox sanguinis

authors

Oda A,Isa K,Ogasawara K,Kameyama K,Okuda K,Hirashima M,Ishii H,Kimura K,Matsukura H,Hirayama F,Kawa K

doi

10.1111/vox.12229

subject

Has Abstract

pub_date

2015-05-01 00:00:00

pages

425-7

issue

4

eissn

0042-9007

issn

1423-0410

journal_volume

108

pub_type

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