RhD DBT-1基因及临床分析1例

DBT-1 phenotype in D variant produce anti-E,anti-D antibody and its genotype analysis:a case report

目的分析1例D变异体DBT-1表型引起输血后产生抗D抗体的原因及分子机制。方法用常规血清学方法确认样本Rh D、C、c、E、e血型及抗体鉴定;采用序列特异性引物-聚合酶链反应（PCR-SSP）方法扩增RHD基因特异性的外显子1—10;结果该例Rh D血清学检测为阳性,Rh分型为CCee,部分D表型为DBT-1类型,输入Rh DE阳性血产生抗-D及抗-E,效价分别为128和4;PCR-SSP方法扩增RHD基因特异性的外显子1—10,外显子5—7缺失,其余RHD基因外显子序列与标准序列相同。结论证实DBT-1部分D表型个体可被正常D抗原致同种免疫反应,在输血及新生儿溶血病方面有重要意义,应提高检测水平,若需要可选择Rh D阴性红细胞制品配合性输注。

Objective To analyze the cause and molecular mechanism of the development of anti-D antibody after transfusion in a patient with DBT-1 phenotype in D variant.Methods Rh D,C,c,E,e blood type and antibody identification were routinely typed by serological methods. In addition,the sequence-specific primer polymerase chain reaction（PCR-SSP）technique was used to clone exon 1 - 10 of the Rh D gene.Results in this case,the patient＇s Rh D phenotype was positive in serological test,Rh was CCee,D variant phenotype was DBT-1. after transfused the Rh DE positive blood,The patient produced anti-D and anti-E antibody which titers was 1：128 and 1：4,respectively. We used PCR-SSP method to clone the specific exon 1—10 of the patient＇s Rh D gene and found the exon 5—7 was absence while the remaining RHD gene exon sequence was as same as the standard sequence. Conclusion It can be concluded that DBT-1 phenotype patient can be induced by the D antigen,which is meaningful in transfusion and neonatal hemolytic disease. So it is important to improve the detection level.and Rh D-negative erythrocyte products can be used in necessary.