基因分型技术在肿瘤患者ABO疑难血型鉴定中的应用

Application of genotyping technique in the identification of ambiguous ABO blood typing in tumor patients

目的探讨基因分型技术辅助肿瘤患者ABO疑难血型的鉴定以有效避免疾病干扰。方法采用血清学方法与序列特异性引物-聚合酶链式反应(PCR-SSP)法、基因测序技术,对于20例ABO血型正反定型不符的肿瘤患者(其中10名为血液系统恶性肿瘤患者)疑难标本做鉴定;同时对这些患者的输血效果做回顾性分析。结果本组肿瘤患者的疑难血型标本中,25%(5/20)为A和(或)B抗原减弱,原发病分别为2例MDS、1例前列腺癌,2例AL;45%(9/20)A或B抗体减弱,分别为4例原发病为MM、1例WM、1例AGL、1例肝癌、1例右半结肠癌、1例食管癌;30%(6/20)为ABO亚型:1例Bel09/O02、1例B(A)04/O2、1例B(A)02/B、2例Bel03/O;1例为新的A亚型等位基因:测序结果为797位置发生突变,根据其他位点的突变判断具有A102/O01特点。基因型和血清学表型结果一致率75%(15/20)。60%(12/20)患者接受过输血治疗,均未发生溶血性输血反应,75%(9/12)患者达到了预期输血疗效。结论基因分型技术结合血清学方法应用于肿瘤患者ABO疑难血型鉴定结果准确,且可正确区分血型抗原抗体减弱或亚型。疾病导致ABO抗原抗体减弱的患者输血时可同型输血。

Objective To explore the application of genotyping technology to assist the identification of ambiguous ABO blood typing in tumor patients,so as to avoid the interference of disease effectively.Methods Combined with serological methods,sequence specific primers-polymerase chain reaction(PCR-SSP)and gene sequencing were applied in this study.Twenty tumor patients with ABO grouping discrepancies(including 10 patients with hematological malignancies)were identified.At the same time,the efficacy of blood transfusion in these patients was analyzed retrospectively.Results Among the ambiguous blood group samples,5 of them(5/20,25%),including 2 cases of MDS,1 case of prostate cancer and 2 cases of AL,showed a weakened expression of A and/or B antigens;9 of them(9/20,45%),including 4 cases of MM,1 case of WM,1 case of AGL,1 case of liver cancer,1 case of right colon cancer and 1 case of esophageal cancer,had weakened A or B antibody specificities;6 of them(6/20,30%)were ABO subtypes,including 1 case of Bel09/O02,1 case of B(A)04/O2,1 case of B(A)02/B,2 cases of Bel03/O and 1 case of a new A subtype allele(a mutation at 797 insT was detected out by sequencing and the allele had the characteristics of A102/O01 according to the mutation at other sites).The coincidence rate of genotypic and serophenotypic results was 75%(15/20).60%(12/20)of the patients had received blood transfusion,and no hemolytic transfusion reaction occurred.75%(9/12)of the patients achieved the expected effect of blood transfusion.Conclusion Genotyping combined with serological typing can be applied for the accurate typing of ambiguous ABO blood group in tumor patients,which can correctly distinguish the weakened ABO antigens and/or antibodies from subtypes.Patients whose ABO antigen and/or antibody is weakened due to disease can receive ABO-identical blood transfusion.