临床输血与检验2025，Vol.27Issue(3)：310-314,5.DOI:10.3969/j.issn.1671-2587.2025.03.005
ABO基因第7外显子c.905A＞G变异导致的Bweak亚型鉴定及遗传特征分析
Identification and Genetic Characteristic Analysis of Bweak Subtype Caused by the c.905A＞G Variant in the 7th Exon of the ABO Gene
刘超 1张新萍 2冀春红 2武文 2傅强2
作者信息
- 1. 解放军联勤保障部队第九六〇医院输血医学科(解放军济南血液中心)||山东中医药大学第二临床医学院,山东 济南 250031
- 2. 解放军联勤保障部队第九六〇医院输血医学科(解放军济南血液中心)
- 折叠
摘要
Abstract
Objective To analyze the serological and molecular biological characteristics of Bweak subtype probands and their families,and to explore the molecular mechanism and genetic characteristics of Bw27 variant.Methods Serological methods were used to detect ABO blood group antigens and antibodies in the proband and family members.Further serological detection was conducted by absorption and elution.Fluorescence PCR was employed for genotyping,and the 6th and 7th exons of the ABO gene were amplified and sequenced.Results The proband's ABO serological test showed inconsistent in p forward and reverse typing,and the absorption and elution test detected weak B antigen on the proband's red blood cells,with a serological phenotype similar to Bel.The genotyping result was B/O1,and gene sequencing revealed a c.905A＞G mutation in the 7th exon of the ABO gene,with a genotype of ABO*BW.27/ABO*O.01.01.Pedigree testing results showed that the proband's mother carried the ABO*BW.27 allele,consistent with familial genetic characteristics.Conclusion The c.905A＞G mutation in the 7th exon of the ABO gene leads to the substitution of aspartic acid at position 302 with glycine,resulting in weak expression of B antigen,which is a characteristic mutations of ABO*BW.27 that can be distinguished from Bel by gene sequencing.A single nucleotide point mutations can cause specific changes in glycosyltransferase and can be inherited to produce specific serological phenotypes in offspring.Blood types should be comprehensively determined based on serological results with genotyping and DNA sequencing results.关键词
Bweak亚型/ABO*BW.27等位基因/吸收放散/基因测序Key words
Bweak subtype/ABO*BW.27/Absorption and elution/Gene sequencing分类
临床医学引用本文复制引用
刘超,张新萍,冀春红,武文,傅强..ABO基因第7外显子c.905A＞G变异导致的Bweak亚型鉴定及遗传特征分析[J].临床输血与检验,2025,27(3):310-314,5.
