CAJ | 학술논문

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。
목적：분석1례D변이체DⅣb형인기중도신생인용혈병적원인급분자궤제。방법용간접항구단백방법（ IAT）학인양본RhD혈형급항체사선화감정；채용서렬특이성인물-취합매련반응（PCR-SSP）방법확증RHD기인특이성적외현자1～10，측서분석RHD기인전장편마서렬；동시검측특이성Rh합자진행RHD기인적순합성측정。결과모친RhD혈청학검측위양성，산생항-D항체；PCR-SSP방법확증RHD기인특이성적외현자1～10，외현자7～9결실，기여RHD기인외현자서렬여표준서렬상동；RHD기인시RHD＋/RHD-형잡합자；인자RhD혈청학검측위양성，혈청중존재항-D항체，직항양성。존재RHD기인특이성적외현자1～10。 RHD기인시RHD＋/RHD＋형순합자。결론모친시DⅣb형적RHD기인외현자7～9부분결실，산생항-D항체인기인자중도신생인용혈병。
Objective 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 .