Two novel mutations p. L319V and p. L91P in ABO glycosyltransferases lead to A_el and B_el phenotypes.

ABSTRACT:

Background

Mutations of the ABO gene may cause the dysfunction of ABO glycosyltransferase (GT) that can result in weak ABO phenotypes. Here, we identified two novel weak ABO subgroup alleles and explored their mechanisms that caused A_el and B_el phenotypes.

Materials and methods

The ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of the ABO gene. The role of the novel mutations were evaluated by a three-dimensional model, predicting protein structure changes, and in vitro expression assay. The total glycosyltransferase transfer capacity in supernatant of transfected cells was examined.

Results

We identified a mutation c. 955C>G (p. L319V) of A allele in an A_el subject and a mutation c. 272T

SUBMITTER: Lei H 

PROVIDER: S-EPMC7605879 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature