Molecular genetic analysis of weak ABO subgroups in the Chinese population reveals ten novel ABO subgroup alleles.

BACKGROUND

A weak ABO subgroup is one of the most important causes of an ABO blood grouping discrepancy. Here, we investigated the distribution of weak ABO subgroups in the Chinese population and identified ten novel weak ABO subgroup alleles.

MATERIAL AND METHODS

We performed phenotype investigations by serological studies, analysed the DNA sequence of the ABO gene by direct sequencing or sequencing after cloning, and evaluated the role of glycosyltransferase mutations by in silico analysis and in vitro expression assay.

RESULTS

Three hundred and fifty-one individuals with a weak ABO subgroup were detected among 1.45 million blood-typed subjects. Ten novel weak ABO subgroup alleles were identified. Molecular modelling and analysis of GTA mutation p.L339P suggested that the mutation may change the local conformation of GTA and reduce its stability. The in vitro expression assay showed that A antigen expression and agglutination of HeLa cells transfected with GTA mutant p.L339P decreased significantly compared to those of cells transfected with wild-type GTA.

CONCLUSION

Ten novel weak ABO subgroup alleles were identified in the Chinese population. GTA mutant p.L339P may lead to a weak A phenotype by changing the local conformation of GTA and reducing its stability.