RhD阴性血存在多种表型，每种表型下还有众多亚型，且各自对应特定的分子机制。本文报道了1例RhD基因第5外显子的第767位点（c.767C>A，p.Ser256Ter）发生核苷酸变异，导致第256位终止密码子取代丝氨酸，引起RhD抗原蛋白结构发生变化，从而使血清学表现为RhD阴性的患者。该等位基因的序列数据为首次报道，已提交GenBank，登记号为PQ740962。对于RhD阴性血的患者，应进一步运用血清学结合分子生物学的手段明确其亚型和分子遗传背景，不同的RhD血型在孕妇、受血者和献血者中需要区别对待，因此，有必要了解更多信息以便进行孕期监测和输血管理。本次报道的RhD新等位基因突变的发现，丰富了RhD阴性血形成的分子生物学机制，有助于RhD血型的准确判断，也有助于制定指导临床的“精准”输血，降低稀有血型人群的输血危害，保障输血安全。

RhD-negative blood exhibits various phenotypes, each having multiple subtypes, and all associated with specific molecular mechanisms. This study reports a case involving a nucleotide variation at position 767 in exon 5 of the RhD gene (c.767C>A, p.Ser256Ter), resulting in the substitution of serine with a termination codon at position 256. These changes led to structural alterations in the RhD antigen protein, resulting in a serologically RhD-negative phenotype in the patient. The sequence data of this allele was reported for the first time and has been submitted to GenBank under the accession number PQ740962. For RhD-negative patients, serological and molecular biological methods should be further used to determine their subtypes and molecular genetic background. Different RhD blood types require differential management for pregnant women, transfusion recipients, and blood donors. Therefore, it is necessary to obtain more information for prenatal monitoring and transfusion management. This novel RhD allele mutation enriches the understanding of the molecular biological mechanisms underlying the formation of RhD-negative blood. It contributes to the accurate determination of RhD blood type and the development of "precision" blood transfusion guidance for clinical practice, thereby reducing transfusion risks for patients with rare blood types and ensuring transfusion safety.