title: TheA312Allele (c.280A>T) Is Responsible for the Weak A Phenotype.
abstract: TheABO*A312allele was found in a 71-year-old Korean male with ABO discrepancy and in his two sons. Although theABO*A312allele (c.280A>T, I94F) in an AwB case was registered in GenBank, the impact of the I94F mutation of the ABO gene on the activity of A transferase has not been studied. Transient transfection experiments were performed in HeLa cells usingA101, A102, andA312alleles synthesized by site-directed mutagenesis, and the functional expression level of A antigen was assessed by flow cytometry. The results showed that theA102andA312alleles expressed A antigen levels that were 80.28% and 19.32%, respectively, of that of theA101allele. Our study results demonstrate that the c.280A>T variant is responsible for the weakened expression of A antigen.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Sejong
authors.initials: S
authors.lastname: Chun
authors.affiliation: Center for Creative Biomedical Scientists, Chonnam National University, Jeollanam-do, South Korea.
authors.forename: Minh-Trang
authors.initials: MT
authors.lastname: Phan
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Hyun-Young
authors.initials: HY
authors.lastname: Kim
authors.affiliation: Department of Companion & Laboratory Animal Science, Kongju National University, Yesan, South Korea.
authors.forename: Dong-Jun
authors.initials: DJ
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Ji-Young
authors.initials: JY
authors.lastname: Seo
authors.affiliation: Department of Laboratory Medicine, Dong-A University Hospital, Busan, South Korea progreen@dau.ac.kr.
authors.forename: Kyeong-Hee
authors.initials: KH
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea duck.cho@skku.edu.|Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul, South Korea.
authors.forename: Duck
authors.initials: D
authors.lastname: Cho
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000368:Aged; D000483:Alleles; D000941:Antigens / Q000378:metabolism*; D005260:Female; D005434:Flow Cytometry; D005838:Genotype; D060005:Genotyping Techniques; D049452:Green Fluorescent Proteins / Q000378:metabolism; D006367:HeLa Cells; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D000017:ABO Blood-Group System; D000941:Antigens; D049452:Green Fluorescent Proteins
keywords: ABO subgroup; expression study; weak A