Molecularbiology study on a subtype caused by a novel c. 899G>A mutation
10.13303/j.cjbt.issn.1004-549x.2026.09.020
- VernacularTitle:一例c. 899G>A新突变导致A亚型的分子生物学研究
- Author:
Binglin XU
1
;
Jianling ZHU
1
;
Shengfei TAI
1
;
Tingting CHENG
1
;
Chunya MA
1
;
Yang YU
1
Author Information
1. Department of Transfusion Medicine, First Medical Center, PLA General Hospital, Beijing 1000853, China
- Publication Type:Journal Article
- Keywords:
ABO blood type;
ABOgene;
c. 899G>A;
exon;
subtype A
- From:
Chinese Journal of Blood Transfusion
2026;39(9):1295-1299
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the molecular mechanism of ABO blood type gene c. 899G>A leading to the occurrence of subtype A. Methods: Serological methods were used to identify ABO blood types. Genotyping was performed using polymerase chain reaction sequence specific (PCR-SSP) kits, and Sanger sequencing was used to analyze the ABO gene exons 1-7. PacBio third-generation sequencing was employed for ABO gene full-length haplotype analysis. AlphaFold3 was used to predict protein structure, and ChimeraX software was used to analyze the impact of amino acid changes caused by base mutations on protein structure. Results: The patient exhibited group O of forward typing and group A of reverse typing. Weak A. antigen was detected by absorption-elution test. Molecular biology detection revealed three mutation sites, c. 261delG, c. 297A>G, and c. 899G>A. Third-generation sequencing showed that one haplotype was recombinant ABO
O.01.01 and the other haplotype was recombinant ABO
B.01-O.01.01, with c. 297A>G and c. 899G>A located on this recombinant haplotype. Protein structure prediction indicated that c. 899G>A resulted in premature termination codons and translation interruption of ABO blood group genes, leading to a 55 amino acid deletion at the C-terminus. Conclusion: The c. 899G>A mutation in the ABO gene of the patient resulted in reduced A antigen expression and an A subtype phenotype.
