中国汉族人群中发现一例Rh血型弱D59型

摘要

目的 鉴定中国汉族人群中发现的1例Rh血型弱D59型.方法 采用常规血清学试剂对筛查出的D变异型血型做血清学鉴定,结合12种单克隆抗体对该标本RHD抗原表位进行确认;使用PCR-SSP法对弱D型进行基因分型.对RHD基因的10个外显子及侧翼序列进行测序并分析其杂合性.结果 在该标本中发现等位基因c.1148T＞C,其血清学反应格局符合弱D表型.RHD合子型鉴定其为RHD+/RHD-杂合型.结论 该先证者为中国人群中首次发现的弱D59型.%Objective To study a case with weak D59 phenotype identified among ethnic Han Chinese population.Methods Routine serological tests were used to analyze the reaction patterns,and the RhD epitopes were verified with 12 monoclonal antibodies.Sequence-specific primer PCR was applied for typing the weak RhD and RhD zygosity in the proband and his family members.Results A c.1148T＞C variant was identified in the proband,for which serological test indicated a weak D phenotype.RHD zygosity testing confirmed that the proband had a RHD+ /RHD-genotype.Conclusion A weak D59 phenotype was firstly identified in a Chinese individual.