Study of 12 blood donors with c. 389T>C variant of ABO*A1.01 allele and weak expression of A from Xi′an area
10.3760/cma.j.cn511374-20240812-00435
- VernacularTitle:西安地区12例A新等位基因c.389T>C变异与A抗原弱表达的研究
- Author:
Qinqin ZUO
1
;
Liangzi ZHANG
1
;
Hua XU
1
;
Yong ZHANG
1
Author Information
1. 陕西省血液中心，西安 710061
- Publication Type:Journal Article
- Keywords:
ABO blood grouping;
ABO Genotyping;
Weak expression
- From:
Chinese Journal of Medical Genetics
2025;42(4):406-410
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To carry out serological and molecular tests on 12 blood donors and family members of one proband with discrepancy results for ABO serological typing.Methods:Twelve blood donors with ABO discrepancies identified by the Blood Center of Shaanxi Province from March 2015 to December 2023 and family members of one proband were selected as the study subjects. Serological blood typing was carried out to determine their blood phenotype. ABO genotype of the samples was determined by direct sequencing of amplicons of exons 1 to 7 and cloning sequencing of amplicons of exons 6 and 7. This study has been approved by the Ethics Committee of Blood Center of Shaanxi Province (Ethics No.202328). Results:Serological results showed that 5 samples were Aweak, 4 samples were Aweak with anti-A1 antibody, and 3 samples were AweakB with anti-A1. Direct sequencing and cloning sequencing results showed that all 12 samples had the haplotype ABO* A1.01/c.389T>C, and family studies showed that the allele could be stably inherited. Glycosyltransferase activity in the plasma was decreased in all samples. Conclusion:The c. 389T>C variant of the ABO* A1.01 allele can alter the encoded amino acid p.Leu130Pro, which weakens the activity of A glycosyltransferase, ultimately leading to the weak expression of A antigen.
