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目的:分析一例ABO血型重组等位基因的分子特性。方法:ABO表型鉴定采用试管法。n ABO基因和n FUT1基因编码区序列检测采用PCR测序法。利用等位基因特异性引物扩增测序技术鉴别先证者n ABO等位基因。先证者及其母亲n ABO基因全长序列测定采用二代测序方法。n 结果:先证者红细胞与抗H不凝集，n FUT1基因为c.551_552del AG纯合，判定先证者为类孟买型。先证者n ABO基因双链测序结果为c.261G/del、467C>T、c.526C>G、c.657C>T、c.703G>A、c.796C>A、c.803G>C、c.930G>A杂合。单链测序结果显示先证者有一个n ABO*n A1.02等位基因，另一个为n ABO*n O.01.01和n ABO*n B.01重组形成的等位基因。二代测序数据显示可能重组的位置在核苷酸c.375-269到c.526之间，家系分析显示先证者重组等位基因遗传自母亲。n 结论:ABO血型等位基因存在重组现象。发现了1例n ABO*n O.01.01和n ABO*n B.01重组形成的新等位基因。n “,”Objective:To analyze the molecular characteristics of a recombinant allele of the ABO blood group.Methods:The ABO phenotype was determined with the tube method. The coding regions of the n ABO and n FUT1genes were analyzed by PCR-sequence based typing. The n ABO alleles of the proband were determined by allele-specific primer sequencing. The full sequences of the n ABO gene of the proband and her mother were determined through next generation sequencing.n Results:The red blood cells of the proband did not agglutinate with anti-H, and the sequence of the n FUT1 gene was homozygous for c. 551_552delAG.The proband was thereby assigned as para-Bombay. Bi-directional sequencing also found that she was heterozygous for c. 261G/del, 467C>T, c.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c. 930G>A of the coding regions of then ABO gene. Allele-specific primer sequencing also found her to carrya n ABO*A1.02 allele and a recombinant allele from n ABO*O.01.01 and n ABO*B.01. The recombination site was located between nucleotidec.375-269 and c. 526, and the allele was maternally derived.n Conclusion:An recombinant allele of the n ABO genehas beenidentified, which has originated from recombination of n ABO*O.01.01 with the n ABO*B.01 allele.n