应用全基因组测序技术鉴定1例Jr(a-)稀有血型  

Application of whole genome sequencing to identify a rare blood type of Jr(a-) phenotype

作　　者：洪小珍[1] 张晶晶 应燕玲[1] 马开荣[1] 黄新宇 许先国[1] 朱发明[1] Hong Xiaozhen;Zhang Jingjing;Ying Yanling;Ma Kairong;Huang Xinyu;Xu Xianguo;Zhu Faming(Transfusion Research institute,Blood Center of Zhejiang Province,Hangzhou 310052,China)

机构地区：[1]浙江省血液中心输血研究所,杭州310052

出　　处：《中华检验医学杂志》2024年第8期963-965,共3页Chinese Journal of Laboratory Medicine

摘　　要：患者, 产妇, 生育史为G2P2, 因血清与谱细胞呈全凝集反应而进行红细胞血型鉴定。血清学方法检测结果显示产妇为O型, RhD表型为CcDEe, 其血清与26个O型谱细胞反应凝集强度均为2+。全基因组测序在编码红细胞血型抗原的50个基因中获得4 014个SNP和958个INDEL位点数据, 仅编号rs72552713的SNP位点预测为高度有害变异。该SNP位点是编码JR血型抗原的ABCG2基因c.376C>T变异, 导致提前形成终止密码(p.Gln126Ter), c.376C>T变异已被国际输血协会红细胞免疫遗传学与血型术语工作小组命名为ABCG2*01N.01。结果发现产妇为稀有Jr(a-)表型, 提示全基因组测序技术可对稀有疑难血型标本进行准确红细胞血型鉴定。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.

关 键 词：全基因组测序技术 分子诊断 Jr(a-)表型 稀有血型 

分 类 号：R446.11[医药卫生—诊断学] R457.11[医药卫生—临床医学]