中国输血杂志2025，Vol.38Issue(2)：274-279,6.DOI:10.13303/j.cjbt.issn.1004-549x.2025.02.019
ABO*B.01等位基因c.3G>C突变所致亚型的鉴定与分子生物学机制研究
Identification and molecular biological mechanism study of subtypes caused by ABO*B.01 allele c.3G>C mutation
摘要
Abstract
Objective To study on the genotyping of a sample with inconsistent forward and reverse serological tests,and to conduct a pedigree investigation and molecular biological mechanism study.Methods The ABO blood group of the proband and his family members were identified using blood group serological method.The ABO gene exon 1-7 of samples of the proband and his family were sequenced by Sanger and single molecule real-time sequencing(SMRT).DeepTMHMM was used to predict and analyze the transmembrane region of proteins before and after mutation.Results The proband and his mother have the Bw phenotype,while his maternal grandfather has ABw phenotype.The blood group results of forward and reverse typing of other family members were consistent.ABO gene sequencing results showed that there was B new muta-tion of c.3 G>C in exon 1 of ABO gene in the proband,his mother and grandfather,leading to a shift in translation start site.DeepTMHMM analysis indicated that the shift in the translation start site altered the protein topology.Conclusion The c.3 G>C mutation in the first exon of the ABO gene leads to a shift in the translation start site,altering the protein topol-ogy from an α-transmembrane region to a spherical signaling peptide,reducing enzyme activity and resulting in the Bw sero-logical phenotype.关键词
Bw亚型/家系调查/DNA测序/蛋白跨膜区Key words
Bw subtype/pedigree investigation/gene sequencing/protein transmembrane region分类
医药卫生引用本文复制引用
张钰,蔡杰,凌亚亭,张璐,李萌,傅强,何成涛..ABO*B.01等位基因c.3G>C突变所致亚型的鉴定与分子生物学机制研究[J].中国输血杂志,2025,38(2):274-279,6.基金项目
2021 年度南京市医学科技发展项目(YKK21172) （YKK21172）
