Article
One novel single nucleotide polymorphism c.424A>G on A1.02 allele in ABO glycosyltransferases leads to Aweak phenotype.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Nov 2024
Lei Hang, Zhang Hui, Wang Yuqing, Li Jiaming, Wang Xuefeng, Lou Can, Cai Xiaohong
Abstract excerpt
BACKGROUND: The dysfunction of the ABO glycosyltransferase (GT) enzyme, which is caused by mutations in the ABO gene, can lead to weak ABO phenotypes. In this study, we have discovered a novel weak ABO subgroup allele and investigated the underlying mechanism to causing its Aweak phenotype. MATERIALS AND METHODS: The ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of...
Topics
- Humans
- ABO Blood-Group System
- Alleles
- Genotype
- Glycosyltransferases
- Phenotype
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
