摘要目的：分析1例D变异体DⅣb型引起重度新生儿溶血病的原因及分子机制。方法用间接抗球蛋白方法（ IAT）确认样本RhD血型及抗体筛选和鉴定；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，测序分析RHD基因全长编码序列；同时检测特异性Rh盒子进行RHD基因的纯合性测定。结果母亲RhD血清学检测为阳性，产生抗-D抗体；PCR-SSP方法扩增RHD基因特异性的外显子1～10，外显子7～9缺失，其余RHD基因外显子序列与标准序列相同；RHD基因是RHD＋/RHD-型杂合子；儿子RhD血清学检测为阳性，血清中存在抗-D抗体，直抗阳性。存在RHD基因特异性的外显子1～10。 RHD基因是RHD＋/RHD＋型纯合子。结论母亲是DⅣb型的RHD基因外显子7～9部分缺失，产生抗-D抗体引起儿子重度新生儿溶血病。

abstractsObjective To study a case of severe hemolytic disease with the newborn induced by DⅣb type of RhD variant and to investigate its molecular mechanism .Methods Indirect Coombs test was performed to identify RhD blood type and detect antibodies against red blood cells (RBCs).RHD genes were analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP) analysis.All of the 10 exons of RHD gene were sequenced .The Rhesus boxes were further analyzed to identify the homozygosis of RHD genes.Results The mother of the newborn was RhD positive carrying anti-D antibody.PCR-SSP analysis indicated that the RHD exons 7-9 were missing, although the sequences of other RHD exons were consistent with standard sequences .RHD zygosity test showed that the mother was RHD+/RHD-.The newborn was RhD positive with anti-D antibody in serum .The result of the direct antiglobulin test was also positive .The sequence of the RHD exons 1-10 of the newborn were identical with standard sequences .The genotype of the newborn was identified as RHD+/RHD+homozygote .Conclusion The mother bears a DⅣb genotype lac-king RHD exons 7-9 which is significantly different from the newborn .The anti-D antibodies in the mother might induce the severe hemolytic disease in the newborn .