RhD阴性个体遗传多态性与抗-D同种免疫关系研究

目的：研究血清学RhD阴性个体的基因多态性与抗-D同种免疫的关系，探讨不同基因型个体的个性化输血策略。方法用盐水法及间接抗人球方法（IAT）确定RHD阴性个体，采用序列特异性引物（SSP-PCR）技术分析样本的RHD基因同时进行抗体筛选和抗体鉴定确定产生抗-D的样本。结果在有免疫史的336例入组者样品中，249例（74.1%）个体完全缺失RhD基因，l68例（20.2%）个体携带RHD1227A等位基因，19例（5.6%）携带RHD-CE（2-9）-D融合基因。抗体鉴定产生IgG抗-D的个体68例，63例（92.6%）完全缺失RhD基因，5例（7.4%）携带RHD-CE（2-9）-D融合基因，携带RHD1227A等位基因未检出产生抗-D的个体。结论血清学确定RhD阴性个体的RHD基因型具有丰富的多态性和不同的遗传学背景。真实RhD阴性和部分D个体有D抗原免疫时存在同种免疫风险，作为受血者应输用阴性血。基因型为RHD1227A患者不会产生抗-D，在输血时可输用阳性血。

The molecular background and D antigen alloimmunity in Rh-negative individuals

Objective To study the genotypeing of Rh-negative individuals and analyze the relationship between genetic background and alloimmunization of D antigen. The transfusion strategies for Rh-negative recipient were explored. Methods Routine serologic tests were used for Rh phenotype and antibody identification. PCR-SSP based methods were used for genotyping of these samples. Results Among the 336 samples, 249 cases were real Rh-negative （74.1%）, 168 cases were DEL RhD 1227A（20.2%）, 19cases were RHD-CE（2-9）-D（5.6%）. By antibody identification, 68 cases were found tp have anti-D. Among the 68 cases, 63 cases were real Rh-negative （92.6%）, 5 cases were RHD-CE （2-9）-D （7.4%）, none of RhD1227A. Conclusion RhD genetic polymorphism do exists in RhD-negative individuals. Real RhD-negative and partial D have potential risks of alloimmunization to the D antigen. Patients who are RhD-negative and partial D should be transfused with Rh-negative blood. The RHD1227A recipients can be transfused with RhD-positive blood.