Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.

doi:10.1186/s12967-021-03141-5

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Article

Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.

Journal of translational medicine - 22 Nov 2021

Hong Xiaozhen, Ying Yanling, Zhang Jingjing, Chen Shu, Xu Xianguo, He Ji, Zhu Faming

Abstract excerpt

BACKGROUND: Nucleotide mutations in the ABO gene may reduce the activity of glycosyltransferase, resulting in lower levels of A or B antigen expression in red blood cells. Six known splice sites have been identified according to the database of red cell immunogenetics and the blood group terminology of the International Society of Blood Transfusion. Here, we describe six distinct splice site variants in...

Topics

ABO Blood-Group System
Alleles
Humans
Mutation
Phenotype
Sequence Analysis, DNA

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Identifiers

PMID: 34809663
DOI: 10.1186/s12967-021-03141-5
PMCID: PMC8607603

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