【摘要】 目的:探讨1例患者类自身抗-Ce合并抗-Jkb引起交叉配血不合并分析其RHCE基因弱表达的原因。方法:采用试管法、毛细管离心法对ABO、Rh和Kidd血型抗原进行鉴定。采用盐水、聚凝胺、抗人球蛋白三介质联用多套谱细胞进行抗体筛查及抗体特异性鉴定;采用多重PCR技术对RHCE基因进行测序及单倍体分析并使用SwissModel进行RHCE蛋白建模。结果:该患者血清中检出类自身抗-Ce合并抗-Jkb抗体。RHCE三代单分子测序显示突变组合为c.48G>C、c.150C>T、c.178C>A、c.201A>G、c.203A>G和c.307C>T,在内含子2中存在109 bp插入序列,同时出现内含子5-8大片段丢失,其Rh血型基因型为DCe/DCe,表型为CCDee。结论:基因分型技术可以协助推断患者血清中部分弱表达的RhC、c、E、e的分子机理,以辅助疑难抗体的鉴定,从而保证患者输血安全。更多还原

【Abstract】 Objective:To investigate the reasons for the weak expression of RHCE gene in a patient whose mimicking anti-Ce combined with anti-Jkb caused cross-matching non-combination.Methods:ABO,Rh,and Kidd blood group antigens were identified by test tube method and capillary centrifugation.Antibody screening and antibody specificity identification were performed using saline,polybrene and antiglobulin in tri-media association with multispectral cells.RHCE gene sequencing and haploid analysis were performed by multiplex PCR technique and RHCE protein modeling was performed using Swiss-Model.Results:The serum of the patient contained anti-Ce mimicking autoantibodies along with anti-Jkb antibodies.c.48G>C,c.150C>T,c.178C>A,c.201A>G,c.203A>G,and c.307C>T mutations were detected in the RHCE triple-molecule sequencing.A 109 bp insertion sequence was found in intron 2,with fragment loss from intron 5-8.The Rh-group genotype was DCe/DCe,and phenotype was CCDee.Conclusion:Genotyping techniques can assist in deducing the molecular mechanisms of some weakly expressed RhC,c,E,and e in patients’ sera to aid in the identification of difficult antibodies and thus ensure the safety of patients’ blood transfusion.更多还原