血清学鉴定与基因检测互补验证ABO疑难血型的应用探讨

doi:10.16150/j.1671-2870.2020.01.014

诊断学理论与实践 ›› 2020, Vol. 19 ›› Issue (1): 69-73.doi: 10.16150/j.1671-2870.2020.01.014

血清学鉴定与基因检测互补验证ABO疑难血型的应用探讨

陈萍¹, 张水木¹, 雷航², 王钰箐², 陈宇³, 王学锋², 蔡晓红²()

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]

收稿日期:2019-03-20 出版日期:2020-02-25 发布日期:2020-02-25
通讯作者: 蔡晓红 E-mail:cxh8407@126.com
基金资助:
上海市自然科学基金(17ZR1417000)

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

CHEN Ping¹, ZHANG Shuimu¹, LEI Hang², WANG Yujing², CHEN Yu³, WANG Xuefeng², CAI Xiaohong²()

1. Department of Transfusion, Xiamen Hospital, Beijing University of Chinese Medicine(Xiamen Hospital of Traditional Chinese Medicine), Fujian Xiamen 361009, China
2. Department of Clinical Transfusion Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
3. Department of Laboratory, Shanghai Jiading Maternal Child Health Hospital, Shanghai 201821, China

Received:2019-03-20 Online:2020-02-25 Published:2020-02-25
Contact: CAI Xiaohong E-mail:cxh8407@126.com

摘要/Abstract

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。

关键词: ABO亚型, 类孟买血型, ABO基因, FUT1基因

Abstract:

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.

Key words: ABO subtype, para-Bombay blood group, ABO gene, FUT1 gene

中图分类号:

R5446.11

陈萍, 张水木, 雷航, 王钰箐, 陈宇, 王学锋, 蔡晓红. 血清学鉴定与基因检测互补验证ABO疑难血型的应用探讨[J]. 诊断学理论与实践, 2020, 19(1): 69-73.

CHEN Ping, ZHANG Shuimu, LEI Hang, WANG Yujing, CHEN Yu, WANG Xuefeng, CAI Xiaohong. Serological identification complemented with gene detection for verification of ABO difficult blood groups[J]. Journal of Diagnostics Concepts & Practice, 2020, 19(1): 69-73.

图/表 3

参考文献 19

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标本	正定型			反定型				唾液血型物质		Lewis血型
标本	抗-A	抗-B	抗-H	A_c	B_c	O_c	自身c	A_c	B_c	抗-L e^a	抗-L e^b
1	-	-	-	3+	-	-	-	-	+	-	+
2	-	-	-	-	3+	-	-	+	-	-	+
3	-	-	-	4+	4+	2+	-	-	-	-	+
4	1+	4+	3+	4+	-	-	-	/	/	/	/
5	2+	4+	4+	2+	-	-	-	/	/	/	/
6	-	2+	3+	4+	-	-	-	-	+	/	/
7	-	2+	3+	3+	-	-	-	-	+	/	/

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

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标本	血清学表型	相应的基因分型	关键核苷酸突变
1	B类孟买	FUT101N.13/01N.13*	FUT1*c.881_882de1TT
2	A类孟买	FUT101N.06/01N.06*	FUT1*c.551_552delAG
3	O类孟买	FUT101N.06/01N.06*	FUT1*c.551_552delAG
4	B(A)	BA.04/O.01.02	ABO*c.640A>G
5	B(A)	BA.04/O.01.01	ABO*c.640A>G
6	Bw	B3.03/O.01.01	ABO*c.155+5G>A

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