A Novel Mutation Eliminates GATA-1 and RUNX1-Mediated Promoter Activity in Galactosyltransferase Gene.

ABSTRACT:

Introduction

Mutations in the promoter region and exons of ABO gene may cause changes in the expression of blood group antigens, often showing a weak ABO phenotype. Here, we identified a novel weak ABO subgroup allele that caused B_el phenotype and explored its mechanisms.

Methods

The ABO phenotype of subjects (Chinese Han nationality) was classified by serological method. The plasma activity of erythrocyte glycosyltransferase was detected by the phosphate coupling method. ABO subtype genotyping was performed by PCR-SSP and exon sequencing. The activity of the promoter was evaluated by a dual-luciferase reporter assay.

Results

We identified a mutation exon 1 c.15_16insTGTTG of the B allele in a B_el subject. Genealogical investigation showed that t

SUBMITTER: Liu F 

PROVIDER: S-EPMC9768290 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature