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- Title
Identification of two novel c.11_15dup; c.17G>A variations in the ABO*B.01 allele giving rise to a weak B phenotype.
- Authors
Liu, Hongbo; Liu, Hongmei; Gui, Rong; Huang, Rong; Chen, Xing; Dai, Xiaohui; Zhou, Shiqiao; Xiao, Xiaohong; Chen, Wei
- Abstract
This article discusses the identification of two novel variations in the ABO*B.01 allele that give rise to weak B and AB phenotypes. The variations, c.11_15dup and c.17G>A, were found in exon 1 of the ABO gene. The study involved a 35-year-old Chinese woman and her family, and serological and genetic testing was conducted to determine their ABO phenotypes and genotypes. The results showed that the proband had the Bvar/ABO*O.01.02 allele, while her children had the ABO*A1.02/Bvar allele. The novel B allele was altered at position 17 and had a duplication between bases 11 and 15. The authors suggest that these variations may decrease the activity of B transferase and weaken the expression of related antigens. Further research is needed to understand the mechanisms underlying the weak B phenotype.
- Subjects
PHENOTYPES; ALLELES; GENETIC variation; ABO blood group system; BLOOD group incompatibility; MOLECULAR cloning
- Publication
Transfusion, 2024, Vol 64, Issue 2, pE6
- ISSN
0041-1132
- Publication type
Article
- DOI
10.1111/trf.17708