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目的:探讨1例类孟买血型的血清学特征、分子生物学及遗传学特点。方法:应用血型血清学方法检测红细胞和唾液的A、B、H抗原；用Sanger测序技术检测先证者及家系成员的n ABO和FUT1基因序列，通过家系调查分析该血型的发生机制及遗传学特点。n 结果:先证者ABO血型正反定型不一致，红细胞上未检出A、B、H抗原，唾液中存在B抗原和H抗原，意外抗体筛查实验阳性。基因测序显示先证者n ABO基因型为n ABO*n B.01/n ABO*n O.01.04，FUT1基因c.948C>A纯合变异(p.Tyr316Ter)。n 结论:发现1例类孟买血型新变异，为FUT1基因编码区c.948C>A错义变异，致其无法编码有活性的H抗原转移酶所致。“,”Objective:To study the serological, molecular and genetic characteristics of an individual with para-Bombay blood group.Methods:Serological method was used to detect the presence of A, B, H antigens in red blood cells and saliva, and Sanger sequencing was used to analyze the FUT1 sequence of the proband and her family members.Genetic mechanism of the blood group was analyzed by pedigree analysis.Results:Forward and reverse typing of the ABO blood group were inconsistent for the proband. A, B and H antigens were not found on erythrocytes, B and H antigens were found in saliva, in addition with unexpected antibodies. The proband was found to havea genotype of n ABO*n B.01/n ABO*n O.01.04 caused by homozygous variant of c. 948C>A (p.Tyr316Ter) of the FUT1gene.n Conclusion:A novel para-Bombay blood group was identified, which was due to the missense variant of c. 948C>A in the coding region of then FUT1 gene, which has probably resulted in inability to synthesis active H antigen transferase.n