目的：探讨血型基因检测结合血清学方法在ABO疑难血型鉴定中的应用。方法：对7例ABO疑难血型标本进行血清学正反定型（必要时增加唾液ABH血型物质测定或吸收放散试验）,采用PCR扩增、直接测序法进行ABO、H、SE基因检测。结果：7例ABO疑难血型标本的血清学表型为,类孟买血型3例,B(A)2例,Bw 2例。基因检测发现,3例类孟买血型均存在H基因突变的等位基因,分别为1例FUT1*01N.13/01N.13,2例FUT1*01N.06/01N.06;3例ABO血型亚型存在相应亚型等位基因,分别为1例BA.04/O.01.02,1例BA.04/O.01.01,1例B3.03/O.01.01;还有1例ABO亚型未检出ABO基因突变。结论：H基因与ABO基因第6、7外显子直接测序对类孟买血型和包括B(A)亚型在内的部分ABO亚型具有明确的鉴定意义,应在各级医院输血科建立及推广。

Objective: To investigate serological identification complemented with gene detection for the verification of difficult ABO blood group. Methods: Seven specimens of difficult ABO blood type cases were serologically stereotyped positively and negatively (saliva blood group substance identification or absorb-diffusion test was added if necessary), and ABO, H, SE gene detection was performed by PCR amplification and direct sequencing. Results: Serological phenotypes of 7 ABO difficult blood group specimens were: 3 cases of para-Bombay blood group, 2 cases of B(A), 2 cases of Bw. Gene detection showed that alleles with H gene mutation were present in all 3 cases of para-Bombay blood group, including 1 case of FUT1* 01N.13/01N.13 and 2 cases of FUT1* 01N.06/01N.06. Three cases of ABO subtype showed 1 case of BA.04/O.01.02, 1 case of BA.04/O.01.01, and 1 case of B3.03/O.01.01. One case of ABO subtype had no ABO gene mutation detected. Conclusions: Gene detection is significant for the identification of para-Bombay blood group and some ABO subtypes, including B(A) subtype, and is a beneficial supplement for serological identification.