中国输血杂志2024，Vol.37Issue(6)：654-659,6.DOI:10.13303/j.cjbt.issn.1004-549x.2024.06.008
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
ABO ambiguous blood types in voluntary blood donors from Putian,Fujian Province:a serology and molecular bi-ology study
摘要
Abstract
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.关键词
亚型/输血安全/基因测序Key words
subtype/the safety of blood transfusion/gene sequencing分类
医药卫生引用本文复制引用
林铁辉,郑雪玲,蔡晓红,雷航..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[J].中国输血杂志,2024,37(6):654-659,6.基金项目
国家自然科学基金青年项目(82000183) （82000183）
