New ABO intron 1 variant alleles

Publications

Share / Export Citation / Email / Print / Text size:

Immunohematology

American National Red Cross

Subject: Medical Laboratory Technology

GET ALERTS SUBSCRIBE

ISSN: 0894-203X
eISSN: 1930-3955

DESCRIPTION

0
Reader(s)
0
Visit(s)
0
Comment(s)
0
Share(s)

SEARCH WITHIN CONTENT

FIND ARTICLE

Volume / Issue / page

Archive
Volume 37 (2021)
Volume 36 (2020)
Volume 35 (2019)
Volume 34 (2018)
Volume 33 (2017)
Volume 32 (2016)
Volume 31 (2015)
Volume 30 (2014)
Volume 29 (2013)
Volume 28 (2012)
Volume 27 (2011)
Volume 26 (2010)
Volume 25 (2009)
Volume 24 (2008)
Volume 23 (2007)
Volume 22 (2006)
Volume 21 (2005)
Volume 20 (2004)
Volume 19 (2003)
Volume 18 (2002)
Volume 17 (2001)
Volume 16 (2000)
Volume 15 (1999)
Volume 14 (1998)
Volume 13 (1997)
Volume 12 (1996)
Volume 11 (1995)
Volume 10 (1994)
Volume 9 (1993)
Volume 8 (1992)
Volume 7 (1991)
Volume 6 (1990)
Volume 5 (1989)
Volume 4 (1988)
Volume 3 (1987)
Related articles

VOLUME 37 , ISSUE 4 (Dec 2021) > List of articles

New ABO intron 1 variant alleles

K. Fennell / M.A. Keller / M.A. Villa / C. Paccapelo / M. Kucerakova / J. Rosochova / C. Clemente DosSantos / L. Brackney / C.J. Lee / R. Metcalf / G. Crovetti / M. Barbieri / S. Travali / G. Barrotta / G. Giuca / L.E. Guerra / G. Ochoa-Garay *

Keywords : ABO intron 1 alleles, altered ABO phenotype

Citation Information : Immunohematology. Volume 37, Issue 4, Pages 178-184, DOI: https://doi.org/10.21307/immunohematology-2021-029

License : (Transfer of Copyright)

Published Online: 29-December-2021

ARTICLE

ABSTRACT

Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire ABO coding sequence, splice junctions, proximal promoter, and intron 1 enhancer. Amplification products were sequenced by next-generation or Sanger dideoxy methods, either directly or after cloning into a bacterial plasmid vector. Eight unreported alleles were found in the 15 cases analyzed. Alleles ABO*A(28+1C) and ABO*A(29–5G) harbor variants that alter the consensus sequence at the intron 1 donor and acceptor splice sites, respectively. The other alleles harbor variants that alter the consensus sequence at transcription factor–binding sites in the intron 1 enhancer: specifically, ABO*A(28+5792T), ABO*A(28+5859A), and ABO*A(28+5860G) at GATA-1 sites; ABO*B(28+5877T) and ABO*B(28+5878G) at a RUNX1 site; and ABO*A(28+5843A) at or near a C/EBP site. Molecular and serologic characterization of ABO alleles can help in their future identification and in the resolution of discrepancies.

Graphical ABSTRACT

You don't have 'Full Text' access of this article.

Purchase Article Subscribe Journal Share