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

ABSTRACT:

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 individuals with ABO subtypes.

Methods

The ABO phenotype was examined using a conventional serological method. A polymerase chain reaction sequence-based typing method was used to examine the whole coding sequence of the ABO gene. The ABO gene haplotypes were studied using allele-specific primer amplification or cloning technology. In silico analytic tools were used to assess

SUBMITTER: Hong X 

PROVIDER: S-EPMC8607603 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature