中国输血杂志2025，Vol.38Issue(5)：660-664,672,6.DOI:10.13303/j.cjbt.issn.1004-549x.2025.05.010
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
Analysis of red blood cell RhAG protein,Rh D,and Rh CE antigens expression in carriers of RHAG*808A:a com-mon variant in the Chinese population
摘要
Abstract
Objective To investigate the impact of RHAG*808A variant,commonly identified in the Chinese popula-tion,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.Bioinfor-matics 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 sur-face 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 indi-viduals.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 anti-gens,so the variant should be a population polymorphism site.关键词
RHAG突变/体外表达/Rh血型抗原Key words
RHAG variant/in vitro expression/Rh blood group antigens分类
医药卫生引用本文复制引用
罗亚林,孙明明,温机智,廖志坚,姬艳丽..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[J].中国输血杂志,2025,38(5):660-664,672,6.基金项目
广东省基础与应用基础研究基金项目(2021A1515012139) （2021A1515012139）
广州市科技计划项目(2023A03J0545,2023A03J0552) （2023A03J0545,2023A03J0552）
广州市医学重点学科(2025-2027) （2025-2027）
