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DFR变异型孕妇血型鉴定及孕期监测策略探讨

Identification of pregnant women with DFR genotype and discussion of prenatal examination strategy
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摘要 目的对3例RhD变异型孕妇进行血型血清学和分子生物学鉴定,探讨其孕期监测策略。方法收集3例D变异型孕妇外周血标本,采用2种单克隆抗-D试剂进行RhD抗原鉴定,使用D-Screen试剂盒进行D抗原表位检测。提取基因组DNA,采用多重连接探针扩增技术(MLPA)和序列特异引物聚合酶链反应(PCR-SSP)基因分型试剂盒检测RHD-CE-D杂交等位基因,使用Sanger测序法对RHD基因进行测序分析。结果D抗原表位检测结果提示这3例标本为DFR变异型标本,进一步分子生物学检测鉴定其基因型分别RHD*DFR2/01N.01(n=2)和RHD*DFR1/1227A(n=1)。结论基因型为RHD*DFR2/01N.01的2例DFR表型孕妇的孕期检测策略应参照D阴性孕妇进行;而携带RHD*1227A等位基因即“亚洲型”DEL等位基因的DFR表型孕妇建议按照“亚洲型”DEL孕妇进行孕期监测,即无需频繁筛查意外抗体,也不需要预防性注射抗-D免疫球蛋白。 Objective To identify three cases of pregnant women with the D variant phenotype using serological and molecular tests,and discuss the strategy of prenatal examination.Methods The peripheral blood samples from three pregnant women with the D variant phenotype were collected.RhD variant phenotype was determined using routine serological methods with two different kinds of monoclonal anti-D.The serological characteristic for the epitope of D antigen was further analyzed using the commercial panel anti-D reagents(D-Screen,Diagast).The hybridRHD-CE-Dallele was analyzed by the Multiplex Ligation-dependent Probe Amplification(MLPA)assay and polymerase chain reaction with sequence specific primers(PCR-SSP)method.Further Sanger sequencing ofRHDgene exons was also performed.Results DFR phenotype was primarily determined by serological characteristic for the epitope of D antigen.RHD*DFR2/01N.01(n=2)andRHD*DFR1/1227A(n=1)genotypes were identified by the MLPA assay,PCR-SSP and Sanger sequencing.Conclusion Two pregnant women withRHD*DFR2/01N.01 genotype should be treated as D negative patients clinically,while the pregnant woman with RHD*DFR1/1227Agenotype can be treated as Asia type DELto avoid unnecessary antibody screening and anti-D prophylaxis.
作者 温机智 贾双双 陈景旺 魏玲 罗广平 姬艳丽 WEN Jizhi;JIA Shuangshuang;CHEN Jingwang;WEI Ling;LUO Guangping;JI Yanli(Institute of Clinical Blood Transfusion,Guangzhou Blood Center,Guangzhou 510095,China;The Key Medical Laboratory of Guangzhou)
出处 《中国输血杂志》 CAS 2022年第3期327-330,共4页 Chinese Journal of Blood Transfusion
基金 广东省基础与应用基础研究基金(2021A1515012532) 国家自然科学基金(81900184) 广州市医学重点学科(2021-2023年)项目。
关键词 DFR RHD-CE-D杂交等位基因 D变异型 RH血型系统 DFR hybridRHD-CE-Dallele D variants Rh blood group system
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