Third-generation sequencing-based molecular genetic analysis and novel alleles identification of 23 ABO subtypes in Urumqi
10.13303/j.cjbt.issn.1004-549x.2026.06.007
- VernacularTitle:乌鲁木齐地区23例ABO亚型的三代测序分子遗传分析及新等位基因鉴定
- Author:
Yanhui QIAO
1
;
Weipeng GUO
1
;
1
;
Baohong XU
1
Author Information
1. Urumqi Blood Center, Urumqi 830000, China
- Publication Type:Journal Article
- Keywords:
ABO subtype;
third-generation sequencing;
haplotype;
novel allele
- From:
Chinese Journal of Blood Transfusion
2026;39(6):750-756
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the molecular genetic background of ABO subgroups among 23 multi-ethnic voluntary unpaid blood donors in Urumqi. Methods: A total of 23 blood donor samples of ABO subgroups with ABO group discrepancies detected by serological tube test were collected. Preliminary ABO genotyping was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP) or real-time fluorescence polymerase chain reaction (RT-PCR). PacBio third-generation sequencing (TGS) was then applied for full-length ABO gene sequencing and haplotype analysis for all samples. Results: A total of 46 haplotype sequences containing single nucleotide variants (SNVs) of ABO alleles were obtained from 23 samples by TGS. Common known ABO alleles were identified including ABO
A1.02, ABO
B.01, ABO
O.01.01, ABO
O.01.02 and ABO
O.01.02. Known ABO subtype alleles included ABO
A2.01, ABO
AW.37, ABO
AW.25, ABO
AW.06, ABO
B3.01, ABO
BW.07 and ABO
BW34. Three novel ABO alleles were identified: ABO
A2. NEW(c.1040_1041insA), ABO
B. NEW(c.949A>G) and ABO
B. NEW(c.1029G>A), all of which have been deposited and released in NCBI GenBank. Conclusion: Third-generation sequencing can accurately obtain the complete sequence of ABO gene and distinguish haplotypes. This study elucidates the molecular genetic background of 23 ABO subtypes, providing a reference for accurate blood group typing and ensuring transfusion safety.
