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北京地区初筛RhD阴性人群血清学和RHD基因分型特征研究OACSTPCD

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

中文摘要英文摘要

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 an-alyze 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 agglu-tination method.RhD antigen phenotype was identified by saline tube method,and RhD negative confirmation test was per-formed 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 frequen-cy 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 ca-ses 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.

宋轲;马春娅;罗圆圆;于洋

中国人民解放军总医院第一医学中心 输血医学科,北京 100853

临床医学

RhD阴性RHD基因基因分型基因频率北京

RhD negativeRHD genegenotypinggene frequencyBeijing

《中国输血杂志》 2024 (008)

872-878,885 / 8

10.13303/j.cjbt.issn.1004-549x.2024.08.005

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