中国输血杂志2025，Vol.38Issue(3)：421-425,5.DOI:10.13303/j.cjbt.issn.1004-549x.2025.03.018
利用PacBio三代测序技术鉴定1例B/O血型嵌合体
B/O blood group chimera identified by PacBio third-generation sequencing:a case report
李蕊蕊 1崔丛丛 1郝萧1
作者信息
- 1. 济南市血液供保中心,山东 济南 250000
- 折叠
摘要
Abstract
Objective To determine the blood group of a patient with ABO forward and reverse typing discrepancies u-sing PacBio third-generation sequencing(TGS)technology,and to explore the application of serological methods and molecu-lar biological methods in identifying chimeric blood groups.Methods The blood group serology testing was utilized.PCR amplification and Sanger sequencing of exons 1-7 of the ABO gene were conducted.The full-length sequencing of the ABO gene and haplotype analysis were carried out by PacBio third-generation sequencing technology.Short tandem repeat typing was also performed.Results Serological testing suggested a suspected B subtype,which appeared mixed field of vision with anti-B antibodies and showed 2+mf strength agglutination.Sanger sequencing revealed a homozygous ABO*O.01.01 geno-type with the c.261delG mutation in exon 6.PacBio TGS identified a predominant ABO*O.01.01/ABO*O.01.01 genotype and a low proportion of ABO*B.01.Nine locis of twenty short tandem repeat(STR)locis showed three or four types of gen-otypes in STR analysis,confirming chimerism.Conclusion The sample was a B/O blood group chimerism.The low pro-portion of ABO*B.01 chimerism was the true cause for the serological mixed field of vision.The PacBio third-generation se-quencing technology can not only determine the ABO gene haplotype but also detect a low proportion gene chimerism in ABO blood groups.关键词
ABO正反不符/嵌合体/Sanger法测序/PacBio三代测序技术/血型血清学Key words
ABO typing discrepancies/chimerism/sanger sequencing/PacBio third-generation sequencing technolo-gy/blood group serology分类
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李蕊蕊,崔丛丛,郝萧..利用PacBio三代测序技术鉴定1例B/O血型嵌合体[J].中国输血杂志,2025,38(3):421-425,5.
