Application of third-generation sequencing technology for identifying the AB weak subtype through family analysis
10.3760/cma.j.cn114452-20240730-00415
- VernacularTitle:应用第三代测序技术针对AB weak亚型的家系分析
- Author:
Wenqian SONG
1
;
Shihang ZHOU
1
;
Ning LI
1
;
Xiaohua LIANG
1
Author Information
1. 大连市血液中心血型研究室，大连 116001
- Publication Type:Journal Article
- Keywords:
Blood group identification;
Haploid;
Third generation sequencing techniques;
Protein structure;
AB weak subtype
- From:
Chinese Journal of Laboratory Medicine
2025;48(5):623-627
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify the ABO blood group in a family with ABO forward/reverse typing discrepancies using serological methods and third-generation sequencing technology.Methods:In January 2024, samples with ABO blood group forward/reverse typing discrepancies were referred to Dalian Blood Center for blood group identification. Standard serological techniques were used to identify the ABO blood group. For the samples of the proband with a serological phenotype of AB weak and his father, full-length haplotype sequencing of the ABO gene was performed using third-generation sequencing. The impact of amino acid mutations on protein structure was also predicted. Results:Sequencing revealed that, compared to the reference sequence ABO*B.01, both the proband and his father had a haplotype with a mutation c.278C>T in Exon 7, resulting in p.Pro93Leu. This is consistent with the ABO*BW.12 genotype. The spatial structure of the ABO*BW.12 protein was altered, leading to reduced stability and impaired function of the B glycosyltransferase (GTB).Conclusion:For the identification of AB weak blood group, the combination of serological methods and third-generation sequencing technology enables accurate and efficient detection of haplotype mutations and identification of ABO subtypes, thus ensuring clinical transfusion safety.
