A 24-base pair deletion in the ABO gene causes a hereditary splice site defect: a novel mechanism underlying ABO blood group O.

ABSTRACT:

Background

Blood group A and B antigens are synthesized by glycosyltransferases regulated by a complex molecular genetic background. A multibase deletion in the ABO gene was identified in two related blood donors. To define its hereditary character and to evaluate genotype-phenotype associations, a detailed study including 30 family members was conducted.

Methods and materials

ABO phenotyping was performed with agglutination techniques and adsorption-elution tests. The secretor status was determined. Allele-specific sequencing of ABO and genotyping of family members by a mutation-specific polymerase chain reaction were carried out. Functional analysis included cloning of complementary DNA and transfection experiments in HeLa cells. The antigen expression was investigated by

SUBMITTER: Matzhold EM 

PROVIDER: S-EPMC7496400 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature