ArticleTransfusion medicine (Oxford, England)2026
The polymorphism of ABO gene regulatory regions in 120 individuals residing in Dalian, China.
Article in Transfusion medicine (Oxford, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThe ABO gene encodes glycosyltransferase A and B enzymes. Reduced enzyme activity is primarily caused by variations in the coding region and splicing sites. Additionally, variations in regulatory regions like the CCAAT binding factor (CBF)/NF-Y binding site, proximal promoter, and + 5.8-kb site may also diminish enzyme activities.
objectiveThis study enrolled 120 Chinese individuals (111 with abnormal serological phenotypes and 9 serologically normal family members of probands from five pedigree studies). MATERIALS AND
methodsThe entire ABO gene of each participant was sequenced using PacBio third-generation sequencing technology. Complete ABO gene sequences (~27.2 kb) were aligned, and phylogenetic analyses were conducted using MEGA11 software.
resultsWe identified 56 A-like (including cisAB), 85 B-like (including BA), 92 O, and 7 hybrid alleles. In the CBF/NF-Y region, all A-like alleles except A2.01 possessed one 43-bp repeat unit (nt.41A). A2.01, 42.3% of the O.01.01, and B-like alleles displayed four 43-bp repeats, with nt.41G in the first unit. Other O alleles had four 43-bp repeats, with the first repeat exhibiting nt.41C, except for one instance where an O.01.01 only contains the first three 43-bp repeats. Two instances of c.-35_-18del, cis-linked with the B.01 alleles, were detected in the proximal promoter. In the +5.8-kb region, six common variations forming five haplotypes were identified. Additionally, a rare variant in the RUNX1 binding region was observed. Regulatory region variations accounted for ~2.5% of serological abnormalities in our cohort. Additionally, seven recombinant ABO alleles were identified, representing 2.92% of the 240 total haplotypes.
conclusionOur findings have rendered the characteristics of the regulatory regions more intuitive, thereby providing foundational data for future research and enhancing the practical applications in transfusion medicine.
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