Identification and molecular biological mechanism study of subtypes caused by ABO*B.01 allele c. 3G>C mutation
10.13303/j.cjbt.issn.1004-549x.2025.02.019
- VernacularTitle:ABO*B.01等位基因c.3G>C突变所致亚型的鉴定与分子生物学机制研究
- Author:
Yu ZHANG
1
;
Jie CAI
1
;
Yating LING
1
;
Lu ZHANG
1
;
Meng LI
2
;
Qiang FU
1
;
Chengtao HE
1
Author Information
1. Nanjing Red Cross Blood Center, Nanjing 210003, China
2. Children’s Hospital of Nanjing Medical University, Nanjing 211112, China
- Publication Type:Journal Article
- Keywords:
Bw subtype;
pedigree investigation;
gene sequencing;
protein transmembrane region
- From:
Chinese Journal of Blood Transfusion
2025;38(2):274-279
- CountryChina
- Language:Chinese
-
Abstract:
[Objective] To study on the genotyping of a sample with inconsistent forward and reverse serological tests, and to conduct a pedigree investigation and molecular biological mechanism study. [Methods] The ABO blood group of the proband and his family members were identified using blood group serological method. The ABO gene exon 1-7 of samples of the proband and his family were sequenced by Sanger and single molecule real-time sequencing (SMRT). DeepTMHMM was used to predict and analyze the transmembrane region of proteins before and after mutation. [Results] The proband and his mother have the Bw phenotype, while his maternal grandfather has ABw phenotype. The blood group results of forward and reverse typing of other family members were consistent. ABO gene sequencing results showed that there was B new mutation of c.3 G>C in exon 1 of ABO gene in the proband, his mother and grandfather, leading to a shift in translation start site. DeepTMHMM analysis indicated that the shift in the translation start site altered the protein topology. [Conclusion] The c.3G>C mutation in the first exon of the ABO gene leads to a shift in the translation start site, altering the protein topology from an α-transmembrane region to a spherical signaling peptide, reducing enzyme activity and resulting in the Bw serological phenotype.
