Molecular identification and pedigree analysis of a case with cisAB09 subtype
10.13303/j.cjbt.issn.1004-549x.2025.12.018
- VernacularTitle:一例cisAB09亚型的分子生物学鉴定及家系分析
- Author:
Huizhen GUO
1
;
Yongkui KONG
2
;
Wensheng HE
1
Author Information
1. Department of Blood Transfusion, Huiji District People's Hospital of Zhengzhou, Zhengzhou 450053, China
2. Department of Blood Transfusion, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
- Publication Type:Journal Article
- Keywords:
AwB subtype;
cisAB09;
PacBio third-generation sequencing technology;
blood group serological testing
- From:
Chinese Journal of Blood Transfusion
2025;38(12):1764-1769
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To perform serological and molecular biological identification of a proband with ABO blood group identified as AwB subtype, and to investigate and analyze the proband's family. Methods: Serological identification of ABO blood groups was performed for the proband and family members using the microcolumn gel assay and saline tube method. Subsequently, PacBio third-generation sequencing was employed to perform full-length sequencing of the ABO gene and haplotype analysis on the proband and her son to accurately determine their genotypes. Results: Serological testing revealed that the proband and her son exhibited the A
B subtype phenotype, while the proband's husband had a normal AB type. The results of third-generation sequencing showed that one allele of the ABO blood group in the proband and her son was ABO
B.01; the other allele, when compared with the reference sequence ABO
A1.01, exhibited a heterozygous mutation of c.297A>G in exon 6, and heterozygous mutations of c.526C>G, c.657C>T, c.703G>A, c.796C>G, c.803G>C, and c.930G>A in exon 7. The c.796C>G mutation resulted in an amino acid substitution of p. Leu266Val in the polypeptide chain, matching the characteristics of the ABO
cisAB.09 allele. Therefore, the genotype of the proband and her son was ABO
cisAB.09/ABO
B.01, with a blood group phenotype of cisAB09 subtype. Conclusion: The combination of serological testing and molecular biological techniques can accurately identify the blood group of patients with ABO subtypes. Family investigation identified two cases of the cisAB09 subtype, demonstrating that the cisAB09 allele can be stably inherited by offspring and remains stable within the family lineage.
