Serological identification and molecular characterization of B (A) 02 subtype  in patients and blood donors from Eastern China

Abstract

This study was designed to identify rare type ABO blood groups, B(A) 02, from Eastern China. Three samples with discordant serological results during routine blood type identification, and four samples from one sample family were selected. All of them were detected by serological method. The exon 6 and 7 of the ABO genes were amplified by PCR and sequenced. They were typed as AsubB by serology and as BO by genotype. In the AsubB samples, nt 700C>G mutation was detected in the B gene, which was previously defined as B(A)02 alleles. In these seven samples, six showed B(A)02/O01 and one showed B(A)02/O02. B(A)02 allele was found to be more common in this study than B(A)04, which is considered to be more frequent than B(A)02. The careful identification of rare blood types is important for the safety of clinical blood transfusion.

A novel ABO insertion c.797insT giving rise to an Ael phenotype

“…T he genetic changes that occur in the ABO gene may give rise to dysfunctional glycosyltransferase A or B and atypical ABO blood group with weakened or absent antigen expression. 1,2 This report describes a new A allele, characterized by an insertion-based mutation c.797insT in Exon 7 of the ABO gene, that occurred in an abnormal weak A phenotype of a Chinese male undergoing health examination in the hospital.…”