Novel regulatory variant in ABO intronic <scp>RUNX1</scp> binding site inducing <scp> A 3 </scp> phenotype

20248 citationsJournal Article

Authors

Gian Andri Thun · Swiss Red Cross

Morgan Gueuning · Swiss Red Cross

Sonja Sigurdardottir · Swiss Red Cross

Eduardo Meyer · Swiss Red Cross

Elise Gourri · Swiss Red Cross

Linda Schneider · Swiss Red Cross

Yvonne Merki · Swiss Red Cross

Abstract

We discovered a regulatory variant in the 8-bp RUNX1 motif of ABO, which extends current knowledge of three other variants affecting the same motif and also leading to A3 or B3 phenotypes. Overall, long-range PCR combined with nanopore sequencing proved powerful and showed great potential as an emerging strategy for resolving cases with cryptic ABO phenotypes.

Topics & Keywords

Blood groups and transfusion Hemoglobinopathies and Related Disorders Platelet Disorders and Treatments

Publication Details

Published in: Vox Sanguinis

Volume 119, Issue 4, pp. 377-382

DOI: 10.1111/vox.13580

Field-Weighted Citation Impact: 3.65

Command Palette

Novel regulatory variant in <i>ABO</i> intronic <scp>RUNX1</scp> binding site inducing <scp> A <sub>3</sub> </scp> phenotype

Authors

Abstract

Topics & Keywords

Publication Details