Identification of a novel c.150dup variant on the ABO*B.01 allele associated with a weak B phenotype
Year: 2026
Type: article
Study design: Case Report
Abstract: The authors have disclosed no conflicts of interest. The data that support the findings of this study are openly available in NCBI at https://www.ncbi.nlm.nih.gov/nuccore/PV953302, reference number PV953302. Fig. S1. Sequence analysis of exon 3 in the ABO gene (proband). Sanger sequencing in both forward (Figure S1A) and reverse (Figure S1B) directions confirmed the presence of the novel heterozygous variant c.150dup. The duplication site of nucleotide G is indicated by a black arrow. Fig. S2. Haplotype confirmation by SMRT sequencing. Long-read sequencing of the proband's ABO gene confirms that the c.105dup variant resides on the ABO*B.01 allele. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Source: Transfusion
DOI: 10.1111/trf.70245
Authors: Cuihua Fan, Liangyuan Chen, Jiandong Zhang, Dongbiao Qiu, Xiaojun Yang
Language: English
Topic: Blood groups and transfusion
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7156316049