北京地区RhD阴性献血者RHD基因分型及RhCE表型分布研究

Research of RHD genotyping and RhCE phenotype distribution of RhD negative blood donors in Beijing area

目的探讨北京地区RhD阴性献血者的RHD基因分型及RhCE表型分布。方法收集2018年3月至2019年6月北京市红十字血液中心确认为RhD阴性的血样100份,应用Rh分型卡鉴定RhCE表型,实时定量聚合酶链反应(real-time quantitative polymerase chain reaction,RT-qPCR)检测RHD基因,对含有RHD基因的样本进行DNA测序分析。结果100例RhD阴性的献血者中,检出78例RHD基因全缺失型,ccee表型占84.6%(66/78);16例携带RHD1227A基因,均含有C抗原;4例携带RHD-CE(2-9)-D基因,RhCE表型均为Ccee;1例为28T基因,RhCE表型为Ccee;1例携带711delC基因,RhCE表型为CcEe。基因检测为RHD1227A基因的RhD阴性个体均有C抗原,RHD1227A与C抗原的表达显著相关(P<0.001)。结论北京地区RhD阴性献血者的RHD基因呈现多态性,主要为RHD基因全缺失型,RhCE表型主要为ccee。

Objective To explore the RHD genotyping and RhCE phenotype distribution of RhD negative blood donors in Beijing.Methods The 100 RhD negative blood samples of Beijing Red Cross Blood Center confirmed by serological method were collected.Rh phenotype card was used to identify RhCE phenotype,RHD genotyping was detected by real-time quantitative polymerase chain reaction(RT-qPCR)and analyzed by DNA sequencing.Results Among 100 RhD negative blood donors,78 cases showed complete deletion of RHD gene,with 84.6%ccee phenotype(66/78).Sixteen cases carried RHD1227A gene,all of which contained C antigen.Four cases carried RHD-CE(2-9)-D gene,and all of the RhCE phenotype was Ccee.One case carried 28T gene and the phenotype was Ccee.One case carried 711delC and the phenotype was CcEe.All of the RhD negative samples with RHD1227A gene had C antigen,and RHD1227A was significantly correlated with the expression of C antigen(P<0.001).Conclusions There is polymorphism in RhD gene of RHD negative blood donors in Beijing,which mostly are complete deletion of RHD gene and RhCE phenotype is mainly ccee.