Characterization of a novel <i>AEL</i> allele harboring a c.28 + 5G>A mutation on the <i>ABO*A2.01</i> background: a study utilizing PacBio third-generation sequencing and functional assays.

ABSTRACT:

Background

Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel AEL allele arising from an intron splice site mutation, which altered the expected A₂ phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.

Methods

A 53-year-old healthy male blood donor with an atypical agglutination pattern was investigated. PacBio sequencing was used to sequence the entire ABO gene of the proband. In silico analysis predicted aberrant splicing, which was experiment

SUBMITTER: Shao LN 

PROVIDER: S-EPMC11701149 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature