The molecular genetic background leading to the formation of the human erythroid-specific Xg^a/CD99 blood groups.

ABSTRACT: The Xg^a and CD99 antigens of the human Xg blood group system show a unique and sex-specific phenotypic relationship. The phenotypic relationship is believed to result from transcriptional coregulation of the XG and CD99 genes, which span the pseudoautosomal boundary of the X and Y chromosomes. However, the molecular genetic background responsible for these blood groups has remained undetermined. During the present investigation, we initially conducted a pilot study aimed at individuals with different Xg^a/CD99 phenotypes; this used targeted next-generation sequencing of the genomic areas relevant to XG and CD99 This was followed by a large-scale association study that demonstrated a definite association between a single nucleotide polymorphi

SUBMITTER: Yeh CC 

PROVIDER: S-EPMC6093725 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature