北京地区初筛RhD阴性人群血清学和RHD基因分型特征研究  

Serological and RHD genotyping characteristics of RhD-negative populations in primary screening in Beijing

作　　者：宋轲 马春娅 罗圆圆 于洋 SONG Ke;MA Chunya;LUO Yuanyuan;YU Yang(Department of Transfusion Medicine,the First Medical Center of Chinese PLA Ceneral Hospital,Beijing 100853,China)

机构地区：[1]中国人民解放军总医院第一医学中心输血医学科,北京100853

出　　处：《中国输血杂志》2024年第8期872-878,885,共8页Chinese Journal of Blood Transfusion

摘　　要：目的研究北京地区初筛RhD阴性人群RHD基因分型,分析不同基因型的血清学特征及Rh表型分布规律。方法收集本院2022年8月—2024年1月通过微板法或微柱凝集法初筛RhD阴性标本204例,使用盐水试管法进行Rh抗原表型鉴定,微柱凝集-间接抗人球蛋白技术进行RhD阴性确认试验,PCR-SSP法和测序技术进行RHD基因分型检测,计算各表型频率和基因频率。结果204例初筛RhD阴性标本Rh血清学表型分布为ccee 112例(54.90%)>Ccee 73例(35.78%)>CCee 9例(4.41%)>ccEe 6例(2.94%)>CcEe 4例(1.96%)。本研究共检出7种RHD基因型,检出数量由高至低依次为129例(63.24%)RHD^(*)01N.01、44例(21.57%)RHD^(*)01EL.01、26例(12.75%)RHD^(*)01N.03、2例(0.98%)RHD^(*)01N.16、1例(0.49%)RHD^(*)06.03.01、1例(0.49%)weak RHD^(*)15,1例(0.49%)RHD^(*)13.01/RHD^(*)01N.01。Rh血型抗原基因频率及表型分布,符合Hardy-Weinberg平衡(P>0.05)。结论北京市初筛RhD阴性人群RHD基因具有多态性,最常见的RhD阴性基因型为RHD^(*)01N.01,RHD变异型为RHD^(*)01EL.01。该研究可为临床实施基因型匹配输血提供数据支持。Objective To study the RHD genotyping of primary screening RhD negative population in Beijing,and analyze the serological characteristics of different genotypes and the distribution of Rh phenotypes.Methods From August 2022 to January 2024,204 RhD negative samples in our hospital were initially screened by microplate or microcolumn agglutination method.RhD antigen phenotype was identified by saline tube method,and RhD negative confirmation test was performed by microcolumn gel-indirect antiglobulin technology.RHD genotyping was performed by polymerasing chain reaction-sequence specific primmer(PCR-SSP)method and sequencing technology,and the phenotypic frequency and gene frequency were calculated.Results The distribution of Rh serologic phenotypes in 204 RhD negative samples were 112 cases of ccee(54.90%)>73 cases of Ccee(35.78%)>9 cases of CCee(4.41%)>6 cases of ccEe(2.94%)>4 cases of CcEe(1.96%).A total of 7 RHD genotypes were detected in this study,including 129 cases of RHD^(*)01N.01(63.24%),44 cases of RHD^(*)01EL.01(21.57%),26 cases of RHD^(*)01N.03(12.75%),2 cases of RHD^(*)01N.16(0.98%),1 case of RHD^(*)06.03.01(0.49%),1 case of weak RHD^(*)15(0.49%)and 1 case of RHD^(*)13.01/RHD^(*)01N.01(0.49%).The frequency and phenotype distribution of Rh blood group antigen gene were consistent with Hardy-Weinberg equilibrium(P>0.05).Conclusion The RHD gene is polymorphic in the primary screening RhD negative population in Beijing,and the most common RhD negative genotype is RHD^(*)01N.01,and the RHD variant is RHD^(*)01EL.01.This study may provide data to support the clinical implementation of genotype-matched blood transfusions.

关 键 词：RHD阴性 RHD基因 基因分型 基因频率 北京 

分 类 号：R457.11[医药卫生—治疗学]