Evaluation of Single Nucleotide Variants in Intron 1 of the ABO Gene as Diagnostic Markers for the A₁ Blood Group.

ABSTRACT:

Introduction

The molecular diagnosis of the A₁ blood group is based on the exclusion of ABO gene variants causing blood groups A₂, B, or O. A specific genetic marker for the A₁ blood group is still missing. Recently, long-read ABO sequencing revealed four sequence variations in intron 1 as promising markers for the ABO*A1 allele. Here, we evaluated the diagnostic values of the 4 variants in blood donors with regular and weak A phenotypes and genotypes.

Methods

ABO phenotype data (A, B, AB, or O) were taken from the blood donor files. The ABO genotypes (low resolution) were known from a previous study and included the variants c.261delG, c.802G>A, c.803G>C, and c.1061delC. ABO variant alleles (ABO*A

SUBMITTER: Bugert P 

PROVIDER: S-EPMC10521232 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature