中国输血杂志2025，Vol.38Issue(2)：280-283,4.DOI:10.13303/j.cjbt.issn.1004-549x.2025.02.020
一例A亚型中新的27delC突变及其血清学和基因分析
Serological and genetic analysis of a novel 27delC variant in A subgroup:a case report
张迎俊 1朱于莉 2冯智慧 2于淑红3
作者信息
- 1. 青岛市第五人民医院 检验科,山东 青岛 266002
- 2. 青岛市中心血站,山东 青岛 266073
- 3. 烟台毓璜顶医院 输血科,山东 烟台 264099
- 折叠
摘要
Abstract
Objective To conduct serological identification and molecular mechanism study on a ambiguous ABO blood group.Methods Standard serological techniques were used for the forward and reverse typing of ABO blood type.ABO gene coding and regulatory regions were analyzed by PCR after DNA extraction.Monoclonal sequencing was used to detect the haplotypes of the DNA sequence,and bioinformatics analysis was applied to predict the possible translation outcomes of the mutated DNA sequence.Results The sample's red blood cells showed mixed field agglutination with anti-A,and the serum agglutinated with B cells,exhibiting serological characteristics of subtype A.Direct sequencing and monoclonal sequen-cing analysis of the ABO gene confirmed one allele as O02,the other had a c.27delC mutation compared with A102,which could cause the translation sequence to terminate prematurely at the 19th amino acids.Analysis and prediction suggested that the mutation might affect the function of the transferase through mechanisms such as shifting the initiation codon,altering the reading frame and affecting the splice sites.Conclusion This case is a rare A subtype caused by the c.27delC variation,and the impact on the glycosyltransferase may involve multiple mechanisms,which require further research and exploration.关键词
ABO血型/A亚型/基因型Key words
ABO blood group/A subtype/genotype分类
医药卫生引用本文复制引用
张迎俊,朱于莉,冯智慧,于淑红..一例A亚型中新的27delC突变及其血清学和基因分析[J].中国输血杂志,2025,38(2):280-283,4.
