XG blood group puzzle solved: what's next?

摘要

In this issue of Blood, Moller et al reveal evidence that they have found the genetic variation underlying the last unresolved blood group system, XG. Equipped with an informatics-based study design, the team identified a GATA1 single nucleotide polymorphism (SNP) 3709 bp upstream from the erythroid transcription start site of the XG coding region. Their further molecular genetics and red blood cell (RBC) biology studies provide strong evidence for the relationship between their GATA1 SNP and the Xg(a+) and Xg(a-) phenotypes.(1)