Analysis of red blood cell RhAG protein, Rh D, and Rh CE antigens expression in carriers of RHAG
808A: a common variant in the Chinese population
10.13303/j.cjbt.issn.1004-549x.2025.05.010
- VernacularTitle:中国人群常见的RHAG
808A变异型等位基因携带者红细胞RhAG蛋白、RhD和RhCE抗原表达的分析
- Author:
Yalin LUO
1
,
2
,
3
;
Mingming SUN
4
;
Jizhi WEN
1
,
2
,
3
;
Zhijian LIAO
1
,
2
,
3
;
Yanli JI
1
,
2
,
3
Author Information
1. Guangzhou Blood Center, Guangzhou 510000, China
2. Institute of Blood Transfusion and Hematology, Guangzhou Medical University, Guangzhou 510000, China
3. The Key Medical Laboratory of Guangzhou, Guangzhou 510000, China
4. King Med Diagnostics Group Co., Ltd, Guangzhou 510000, China
- Publication Type:Journal Article
- Keywords:
RHAGvariant;
in vitroexpression;
Rh blood group antigens
- From:
Chinese Journal of Blood Transfusion
2025;38(5):660-664
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the impact of RHAG
808A variant, commonly identified in the Chinese population, on RhAG protein, RhD and RhCE antigens expression through in vivo and in vitro expression analysis. Methods: A missense mutation of RHAG gene (c. 808G>A, p. Val270Ile) with high frequency was found in KMxD database. Bioinformatics analysis was performed using Polyphen-2 and Provean software. High resolution melting (HRM) method was utilized to screen for the variant carriers in the blood donors. The expression of RhAG protein, RhD and RhCE antigens on the surface of red cells of variant carriers were detected via flow cytometry. Wild-type and mutant vectors of RHAG were constructed and transfected into HEK 293T cells for in vitro expression analysis. Then, the expression of RhAG protein, RhD and RhCE antigens were analyzed by flow cytometry. Results: Polyphen-2 and Provean software suggested that the amino acid change (p. Val270Ile) of RhAG protein may be harmful or neutral respectively. Among the 999 blood donors from Guangzhou Blood Center, 4 homozygous carriers and 99 heterozygous carriers of RHAG
808A mutant allele were identified. The frequency of this allele was 5.4% (107/1 998). No significant differences in RhAG protein, RhD and RhCE antigens expression level was identified between the homozygous carriers, heterozygous carriers of RHAG
808A variant allele and the wild-type individuals. In vitro analysis for antigen expression study obtained the similar results. Conclusion: The RHAG
808A variant allele commonly identified in the Chinese population has no effect on the expression of RhAG protein, RhD and RhCE antigens, so the variant should be a population polymorphism site.
