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目的:分析2例罕见弱D型献血者的分子机制。方法:采用常规血清学方法检测Rh血型D、E、C、c和e 5个抗原表型,间接抗人球蛋白试验确认D抗原;用PCR特异性扩增n RHD基因的10个外显子及邻近内含子区域,并测序分析其编码序列。用PCR扩增检测融合Rh盒子以分析n RHD基因杂合性。n 结果:抗人球试验显示2例献血者样本均为D弱阳性。n RHD基因外显子测序结果显示1号样本第2外显子存在208 C>T杂合突变,第9外显子存在1227G>A杂合突变;2号样本第5外显子存在779 A>G纯合突变。1号样本为RHD+/RHD+型,2号样本为RHD+/RHD-杂合型,与测序结果一致。根据Rhesus Base的命名规则,1号样本为弱D122型,2号样本为弱D149型。n 结论:献血者初筛D阴性样本,进一步做D抗原阴性确认试验及分子生物学分析将有利于安全输血。“,”Objective:To explore the molecular basis of two individuals with weak D variant of the Rh blood type.Methods:Routine serological testing was carried out to detect the D, C, c, E and e antigens of the Rh blood group. The D antigen was further detected with an indirect antiglobulin test. The presence of Rhesus box was detected by PCR to determine the homozygosity of the n RHD gene.n Results:Both samples were determined as weak D phenotype by the indirect antiglobulin test. DNA sequencing revealed that case 1 harbored a heterozygous 208C>T variant in exon 2 and a heterozygous 1227G>A variant in exon 9; while case 2 harbored homozygous 779A>G variants of exon 5 of then RHD gene. Case 1 was determined as RHD+ /RHD+ , while case 2 was determined as RHD+ /RHD-. The two samples were respectively named as weak D type 122 and weak D type 149 based on the rules of Rhesus Base Nomenclature.n Conclusion:D negative blood donors should subject to indirect antiglobulin testing and molecular analysis for safer transfusion.