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目的:鉴定1例罕见的类孟买型ABmh,并探讨其分子机制。方法:应用血型血清学方法确定先证者的血型，PCR产物直接测序法分析n ABO基因第6、7外显子、n FUT1和n FUT2基因序列。n 结果:血清学实验结果表明先证者为AB类孟买血型。n ABO基因测序结果显示n ABO基因型为ABO*A1.02/B.01，n FUT1基因直接测序显示先证者的n FUT1基因为c.551-552del AG缺失、c.881-882del TT缺失的杂合型，其4个子女中3个为B型、1个为A型，H抗原表达正常。n 结论:FUT1基因编码区双碱基缺失杂合可形成类孟买血型，单链缺失变异携带者的ABO表型正常。n “,”Objective:To explore the molecular basis for a rare case with Para-Bombay AB blood type.Methods:Serological method was used to determine the blood type of the proband. Exons 6 and 7 of the n ABO gene and the coding regions of n FUT1 and n FUT2 genes were analyzed by direct sequencing.n Results:Serological results showed that the proband was a Para-Bombay AB subtype. His genotype was determined as ABO*A1.02/B.01. The proband was also found to harbor c. 551-552del AG and c. 881-882del TT of the n FUT1 gene. For his four children, there were three type B and one type A, though the expression of the H type was normal.n Conclusion:The double deletions in the coding region of the n FUT1 gene probably underlay the Para-Bombay blood type in the proband. Carrier of single-strand deletions may have a normal ABO phenotype.n