中国输血杂志2025，Vol.38Issue(12)：1707-1712,6.DOI:10.13303/j.cjbt.issn.1004-549x.2025.12.009
50例RhD变异型的分型研究及输血和孕期管理建议
Genotyping of 50 RhD variant samples:implication for transfusion ad pregnancy management
摘要
Abstract
Objective To genotype 50 RhD variant samples from Guangzhou,China,using our previously established genotyping strategy,thereby providing guidance for transfusion management and antenatal monitoring in RhD-variant individ-uals.Methods Between June and August 2024,fifty samples identified as RhD variants during RhD-negative confirmation testing at Guangzhou Blood Center were collected.Serological testing for the D antigen was performed with two different anti-D reagents,and the epitope profiles of the D antigen were determined using a commercial panel of monoclonal anti-D rea-gents containing nine kinds of monoclonal anti-D.Genomic DNA was extracted,and high-resolution melting(HRM)analy-sis was applied to detect the Asian-type DEL(RHD*1227A).Subsequently,RHD genotyping was carried out using Multi-plex Ligation-dependent Probe Amplification(MLPA)and Sanger sequencing.Results Among the 50 D variant samples,17(34.0％)Asian type DEL samples were detected by HRM,including 13 cases with RHD*DEL1/01N.01 genotype and 4 cases with RHD*DEL1/DEL1 genotype.Eleven(11/50,22.0％)samples were typed as DVI by the epitope profiles of D antigen.The epitope profiles of D antigen combined with Sanger sequencing of exon 6 identified 5(5/50,10.0％)cases of RHD*weak partial 15/01N.01.MLPA combined with Sanger sequencing identified two cases of RHD*DVI.3/DEL1,repre-senting 4.0％(2/50)of the samples.Additionally,the following RHD genotypes were each detected in one case:RHD*weak D type 18/01N.04,RHD*weak D type 72/01N.01,RHD*weak D type 95/DEL1,RHD*weak D type 114/DEL1,RHD*weak D type 136/DEL1,RHD*weak D type 147/01N.01,RHD*496G/496G,RHD*536C/01N.01,RHD*689A/689A,RHD*689A/DEL1,RHD*DEL32/DEL1,RHD*DV.1/01N.01,RHD*DV.5/01N.01,RHD*01.01/01N.01,and RHD*01/01N.01.Conclusion Fifty D variant individuals were typed using our previously established serological and mo-lecular approach.These findings provide guidance for precision transfusion therapy in RhD variant patients and inform evi-dence-based decisions regarding anti-D immunoglobulin prophylaxis for RhD variant pregnant women.关键词
RhD变异型/RHD基因分型/多重连接依赖的探针扩增(MLPA)技术/Sanger测序Key words
RhD variant/RHD genotyping/multiple ligation-dependent probe amplification(MLPA)/Sanger sequen-cing分类
医药卫生引用本文复制引用
WANG Ke,MA Xiaojie,LI Hailin,WEN Jizhi..50例RhD变异型的分型研究及输血和孕期管理建议[J].中国输血杂志,2025,38(12):1707-1712,6.基金项目
广东省基础与应用基础研究基金(2024A1515012995),广州市医学重点学科(2025-2027),吉安市科技计划项目(20255-031157) （2024A1515012995）
