首页|罕见类孟买血型FUT1和FUT2基因序列及后续输血方案分析

罕见类孟买血型FUT1和FUT2基因序列及后续输血方案分析

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目的:分析类孟买血型血清学特点及FUT1和FUT2基因序列,探讨其分子机制和后续输血方案.方法:收集2019年1月—2023年12月发现的6例疑似类孟买血型者,采用常规盐水试管法进行ABO正反定型和H抗原检测,采用吸收放散试验检测弱A、弱B抗原,基因分型采用PCR-SBT法,基因测序采用Sanger法;交叉配血采用凝聚胺法.结果:6例均为类孟买血型,其中2例为Amh、4例为Bmh.FUT1基因型:3例为c.551-552delAG,1 例为 c.551-552delAG/c.881-882delTT,1 例为 c.551-552delAG/c.755 G>C,1 例为 c.551-552delAG/c.658 C>T;FUT2基因型:5例为c.357 C>T,1例为c.716 G>A.在室温和37℃下采用血清分别与A型、B型、O型悬浮红细胞进行交叉配血试验,显示室温下例1、例2、例4交叉配血不相合,37℃下交叉配血均相合.结论:分子诊断准确鉴定类孟买血型,对后续输血方案制定具有重要临床意义.
Analysis of sequence of FUT1 and FUT2 and transfusion scheme of rare para-bombay blood type individuals
Objective:To analyze the serological characteristics and FUT1 and FUT2 sequences of Para-Bom-bay Blood Type individuals,and explore its molecular mechanism and transfusion scheme.Methods:Six suspected para-Bombay phenotype individuals found from January 2019 to December 2023 were collected.ABO positive and negative typing and H antigen were detected by conventional saline tube method,weak A and weak B antigens were detected by absorption and emission test,genotyping was performed by PCR-SBT method,and gene sequen-cing was performed by Sanger detection technology.Results:Six individuals were all para-Bombay blood group,including 2 cases of Amh and 4 cases of Bmh.FUT1 genotype:3 cases of c.551-552delAG,1 case of c.551-552delAG/c.881-882delTT,1 case of c.551-552delAG/c.755 G>C,and 1 case of c.551-552delAG/c.658 C>T;FUT2 genotype:5 cases of c.357 C>T,and 1 case of c.716 G>A.Conclusion:Molecular diagnosis can accu-rately identify para-Bombay blood group,and special transfusion scheme can ensure safe blood transfusion.

para-Bombay blood groupα-1,2-fucosyltransferaseFUT1 geneFUT2 genesafe blood transfusion

王秀娣、乐亮、朱碎永、林甲进

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温州医科大学附属第二医院育英儿童医院输血科(温州,325027)

类孟买血型 α-1,2-岩藻糖基转移酶 FUT1基因 FUT2基因 交叉配血

2024

临床血液学杂志
华中科技大学同济医学院血液病研究所 北京医科大学血液病研究所

临床血液学杂志

CSTPCD
影响因子:1.063
ISSN:1004-2806
年,卷(期):2024.37(12)