血清学鉴定与基因检测互补验证ABO疑难血型的应用探讨  

Serological identification complemented with gene detection for verification of ABO difficult blood groups

作　　者：陈萍 张水木 雷航[2] 王钰箐 陈宇[3] 王学锋[2] 蔡晓红[2] CHEN Ping;ZHANG Shuimu;LEI Hang;WANG Yujing;CHEN Yu;WANG Xuefeng;CAI Xiaohong(Department of Transfusion,Xiamen Hospital,Beijing University of Chinese Medicine(Xiamen Hospital of Traditional Chinese Medicine),Fujian Xiamen 361009,China;Department of Clinical Transfusion Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Laboratory,Shanghai Jiading Maternal Child Health Hospital,Shanghai 201821,China)

机构地区：[1]北京中医药大学厦门医院(厦门市中医院)输血科,福建厦门361009 [2]上海交通大学医学院附属瑞金医院临床输血科,上海200025 [3]上海市嘉定区妇幼保健院检验科,上海201821

出　　处：《诊断学理论与实践》2020年第1期69-73,共5页Journal of Diagnostics Concepts & Practice

基　　金：上海市自然科学基金(17ZR1417000)。

摘　　要：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, including1 case of FUT1* 01 N.13/01 N.13 and 2 cases of FUT1* 01 N.06/01 N.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.

关 键 词：ABO亚型 类孟买血型 ABO基因 FUT1基因 

分 类 号：R5446.11[医药卫生—心血管疾病]