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首页|期刊导航|中国输血杂志|福建莆田地区无偿献血者ABO疑难血型的血清学与分子生物学研究

福建莆田地区无偿献血者ABO疑难血型的血清学与分子生物学研究OACSTPCD

ABO ambiguous blood types in voluntary blood donors from Putian,Fujian Province:a serology and molecular bi-ology study

中文摘要英文摘要

目的 探讨莆田市无偿献血人群疑难血型血清学及分子生物学特征,并对相关献血者建档,以备自身输血或者助人应急献血.方法 收集莆田市中心血站 2019 年 1 月1 日—2023 年8 月31 日期间68 593 名无偿献血者的血液标本,采用血清学方法进行血型鉴定;对疑难血型标本进行ABO基因(包含启动子、增强子和7 个外显子以及其侧翼序列和内含子 6)以及FUT1 基因检测;运用Chimira和PyMOL软件建立 3D模型,预测基因突变对酶结构的影响.结果 血清学共检出 16 例ABO亚型,其中检出率最高的表型为类孟买型(0.73/万),其次为cisAB型(0.44/万);基因分析共检出 12 例含有已知突变的标本(FUT1.01N.06/FUT1.01N.06 4 例,FUT1 01W.08/FUT1.01N.06 1 例,A2.08/B.01 2 例,BA.02/O.01.01 1 例,A3.07/O.01.01 1 例,cisAB.01/B.01 3 例),4 例未找到关键突变(A1.02/B.01 2 例,A1.02/O.01.02 2 例).3D分子模型分析发现,A3.07 等位基因和FUT1.01W.08 等位基因均能导致相应糖基转移酶活性降低,导致亚型的出现.结论 福建莆田地区无偿献血者最常见的引起ABO正反不符的表型为类孟买型,其最常见等位基因为FUT1.01N.06.

Objective To investigate the serological and molecular biology characteristics of ambiguous blood types a-mong voluntary blood donors in Putian,and to file records for relevant donors for future reference in case of their own trans-fusion needs or emergency donations to others.Methods A total of 68 593 blood samples from voluntary blood donors in Putian Central Blood Station between January 1,2019 and August 31,2023 were collected and tested for blood types using serological methods.ABO gene(including promoters,enhancers and seven exons as well as their flanking sequences and in-tron 6)and FUT1 gene testing were performed on ambiguous blood types.3D models were constructed using Chimira and Py-MOL software to predict the impact of gene mutations on enzyme structure.Results A total of 16 ABO subtypes were identi-fied by serological methods,with the highest detection rate as the para-Bombay phenotype(0.73 per 10 000),followed by the cisAB phenotype(0.44 per 10 000).Gene analysis revealed 12 cases with known mutations(4 cases of FUT1.01N.06/FUT1.01N.06,1 case of FUT1 01W.08/FUT1.01N.06,2 cases of A2.08/B.01,1 case of BA.02/O.01.01,1 case of A3.07/O.01.01,3 cases of cisAB.01/B.01),and key mutations were not found in 4 cases(2 cases of A1.02/B.01,2 cases of A1.02/O.01.02).3D molecular model analysis revealed that both A3.07 and FUT1.01W.08 allele can lead to a decrease in ac-tivity of the corresponding glycosyltransferases,resulting in the emergence of subtypes.Conclusion The most common phe-notype causing discrepancies in ABO blood type testing among voluntary blood donors from Putian is the para-Bombay phe-notype,with the most common allele being FUT1.01N.06.

林铁辉;郑雪玲;蔡晓红;雷航

莆田市中心血站,福建 莆田 351100上海交通大学医学院附属瑞金医院 输血科

基础医学

亚型输血安全基因测序

subtypethe safety of blood transfusiongene sequencing

《中国输血杂志》 2024 (006)

654-659 / 6

国家自然科学基金青年项目(82000183)

10.13303/j.cjbt.issn.1004-549x.2024.06.008

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