Application of whole genome sequencing to identify a rare blood type of Jr(a-) phenotype
10.3760/cma.j.cn114452-20240220-00087
- VernacularTitle:应用全基因组测序技术鉴定1例Jr（a-）稀有血型
- Author:
Xiaozhen HONG
1
;
Jingjing ZHANG
;
Yanling YING
;
Kairong MA
;
Xinyu HUANG
;
Xianguo XU
;
Faming ZHU
Author Information
1. 浙江省血液中心输血研究所，杭州 310052
- Keywords:
Whole genome sequencing;
Molecular diagnosis;
Jr(a-) phenotype;
Rare blood type
- From:
Chinese Journal of Laboratory Medicine
2024;47(8):963-965
- CountryChina
- Language:Chinese
-
Abstract:
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.
