【摘要】 目的 研究1例RhD血型鉴定部分凝集结果个体及其家系血清学表现和RHD基因。方法 通过血型微柱凝胶卡检测先证者ABO及RhD血型；盐水试管法检测先证者及其父母RhCcEe抗原；间接抗人球蛋白试验(indirect antihuman globulin test,IAT)及流式细胞术检测先证者RhD抗原。PCR序列特异性引物(PCR sequence specific primer, PCRSSP)检测RHD基因以及RhD杂合型分析，基因测序方法分析RHD基因编码区序列。结果 血清学检测发现先证者血型为A型RhCcee，血型微柱凝胶卡、盐水试管法以及IAT法检测RhD抗原，结果呈部分凝集现象。流式细胞术结果显示先证者RhD抗原性减弱。经RHD基因编码序列分析发现，RHD基因第9外显子上的第1212位碱基发生C>A纯合突变，为RHD*weak D type 72的特征性突变点。家系调查显示，先证者父亲为O型RhCCDee，母亲为A型RhCcDee。父亲携带RHD*weak D type 72等位基因，基因型为RHD*weak D type 72/RHD+；母亲一条染色体缺失了全部的RHD基因，基因型为RHD+/RHD-。证明先证者分别从父亲和母亲遗传RHD*weak D type 72和RHD-等位基因，基因型为RHD*weak D type 72/RHD-。结论 发现了1例RHD*weak D type 72/RHD-基因型个体，丰富了RHD*weak D type 72变异型的研究数据。根据家系调查证明，RHD*weak D type 72等位基因由遗传获得，而非由个体基因变异形成。更多还原

【Abstract】 Objective To study the serological manifestations and RhD gene of an individual and his family with partial agglutination results of RhD blood group identification. Methods ABO and RhD blood groups of the proband were detected by microcolumn gelatin card. RhCcEe phenotypes of the proband and her parents were identified by serological test. Indirect antihuman globulin test(IAT) and flow cytometry were used to detect the RhD antigen of the proband. RHD genotype and RHD zygosity testing of the family were detected by PCR sequence specific primer(PCR-SSP). Also, the full length coding region of RHD gene was sequenced. Results The blood type serological testing of the proband presented as A, RhCcee. RhD blood group testing showed the result with mixed-field agglutination. Flow cytometry showed that the RhD antigenicity of the proband was decreased. RHD genotyping showed that the proband with a RHD c.1212 C > A mutation, which was the characteristic of RHD*weak D type 72. Pedigree investigation showed that the blood type of the proband’s father was O, RhCCDee, and the blood type of the proband’s mother was A, RhCcDee. The genotype of the father was RHD*weak D type 72/RHD+. The mother had a deletion of all the RHD genes on one chromosome, and the genotype of the mother was RHD+/RHD-. The proband inherited RHD*weak D type 72 and RHD-alleles from the father and mother respectively. The genotype of the proband was RHD*weak D type 72/RHD-. Conclusion A case with the genotype of RHD*weak D type 72/RHD-was found. They conclude, as a complementary data, that the RHD*weak D type 72 allele was confirmed descend stably in this family.更多还原