【摘要】 目的分析1名部分D表型孕妇抗-D同种免疫反应及部分D表型基因的遗传情况。方法常规血清学方法鉴定1名部分D表型孕妇血清抗-D,然后通过RHD基因10个外显子的检测、RHD基因合子型分析、以及D抗原12个抗原表位的测定,系统鉴定该例部分D表型的类别和亚型,并对其1家3代进行遗传分析。结果该例部分D表型为DVI(Ⅲ)类型,孕妇血清抗-D是由于妊娠Rh阳性子女产生的,效价为32,抗-D不与其自身红细胞及其它DVI(Ⅲ)部分D表型红细胞反应;家系分析表明先证者弟亦为DVI(Ⅲ)部分D表型,其父亲为隐性携带DVI(Ⅲ)部分D表型基因,而其母亲1条染色体缺失RHD基因,先证者DVI(Ⅲ)部分D表型基因未遗传至其女。结论证实DVI(Ⅲ)部分D表型个体可被正常D抗原致同种免疫反应,同时显示个例的基因变异为家系遗传性,而非个体基因变异所致。更多还原

【Abstract】 Objective To conduct the immunological analysis of a partial D pregnant woman with allo-anti-D and the genetic study on the partial D phenotype.Methods The allo-anti-D antibodies were detected from a partial D pregnant woman through the routine serological methods.And the RHD exons,zygosity and 12 D antigen epitopes were all identified for partial D subtyping.Furthermore,family-tree genetic analysis was also performed on three generations of this case.Results The pregnant woman was identified as partial D type DVI(Ⅲ).The antibody in her serum(1∶32) was produced through gestations of Rh-positive fetuses,which did not react with her own red blood cells and the other DVI(Ⅲ) red blood cells.Family study showed that the proband’s brother also was DVI(Ⅲ) phenotype.Their father possesses one DVI(Ⅲ) allele and one normal RHD gene,while their mother has only one RHD gene.The proband’s DVI(Ⅲ) allele was not passed down to her daughter.Conclusion This is the first case that a Chinese DVI(Ⅲ) person was alloimmunized by D antigen.And we also confirmed that the DVI(Ⅲ) allele in this family was ancestral,instead of spontaneous.更多还原