Serological and genetic analysis of a novel 27delC variant in A subgroup: a case report
10.13303/j.cjbt.issn.1004-549x.2025.02.020
- VernacularTitle:一例A亚型中新的27delC突变及其血清学和基因分析
- Author:
Yingjun ZHANG
1
;
Yuli ZHU
2
;
Zhihui FENG
2
;
Shuhong YU
3
Author Information
1. Clinical Laboratory, Qingdao NO.5 People’s Hospital, Qingdao 266002, China
2. Institute of Transfusion Medicine, Qingdao Blood Center, Qingdao 266073, China
3. Department of Blood Transfusion, Yan Tai Yuhuangding Hospital, Yantai 264099, China
- Publication Type:Journal Article
- Keywords:
ABO blood group;
A subtype;
genotype
- From:
Chinese Journal of Blood Transfusion
2025;38(2):280-283
- CountryChina
- Language:Chinese
-
Abstract:
[Objective] To conduct serological identification and molecular mechanism study on a ambiguous ABO blood group. [Methods] Standard serological techniques were used for the forward and reverse typing of ABO blood type. ABO gene coding and regulatory regions were analyzed by PCR after DNA extraction. Monoclonal sequencing was used to detect the haplotypes of the DNA sequence, and bioinformatics analysis was applied to predict the possible translation outcomes of the mutated DNA sequence. [Results] The sample’s red blood cells showed mixed field agglutination with anti-A, and the serum agglutinated with B cells, exhibiting serological characteristics of subtype A. Direct sequencing and monoclonal sequencing analysis of the ABO gene confirmed one allele as O02, the other had a c.27delC mutation compared with A102, which could cause the translation sequence to terminate prematurely at the 19th amino acids. Analysis and prediction suggested that the mutation might affect the function of the transferase through mechanisms such as shifting the initiation codon, altering the reading frame and affecting the splice sites. [Conclusion] This case is a rare A subtype caused by the c.27delC variation, and the impact on the glycosyltransferase may involve multiple mechanisms, which require further research and exploration.
