Application of whole genome sequencing to identify a rare blood type of Jr(a-)phenotype
A puerpera with a obstetric history of gravida 2,para 2,underwent blood typing due to the presence of agglutination reactions in her serum against all tested red blood cells.She was found to be blood type O and her RhD phenotype was identified as CcDEe through serological testing.The reaction agglutination intensity between her serum and 26 O-type blood cells from the panel was 2+.Whole genome sequencing was performed,yielding data on 4014 single nucleotide polymorphisms(SNPs)and 958 insertion/deletion(INDEL)loci across 50 genes responsible for encoding blood group systems.Among these,only a single SNP,rs72552713 was predicted to be a highly harmful variant,which is the c.376C＞T variation in the ABCG2 gene encoding JR blood group antigen,leading to the premature stop codon(p.Gln126Ter).The c.376C＞T variation has been named the ABCG2*01N.01 by the working party on Red Cell Immunogenetics and Blood Group Terminology of International Society of Blood Transfusion.The postpartum woman was found to have the Jr(a-)phenotype.Whole genome sequencing can accurately determine the antigens of blood group systems in some difficult specimens.
Whole genome sequencingMolecular diagnosisJr(a-)phenotypeRare blood type
万方数据
维普
