Serological and molecular analysis of the B(A) subtype in China—A systematic review

Jiang, Wang; Wang, Y F; Tan, Jinzhe; Tan, Bin

doi:10.1016/j.tracli.2023.07.001

Cited by 1 publication

(2 citation statements)

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“…Nowadays, six B(A) alleles, namely ABO*BA.01-06, have been documented on the ISBT website (https://www.isbtweb.org/resource/001aboalleles.html, accessed 15 Nov 2023). Most common B(A) alleles in China are ABO*BA.02 and ABO*BA.04, the latter predominately reported from north China [4].…”

Section: Introductionmentioning

confidence: 99%

“…Nevertheless, A antigen is stronger than B antigen in the cisAB phenotype, whereas B(A) is characterized by the expression of weak A antigen on type B red blood cells (RBCs) and detection of anti-A antibodies in the serum [3]. The frequency of B(A) is low among Caucasians in Europe, ranging from approximately 1 in 170,000-580,000, but it is relatively high in China (approximately 1 in 50,000-100,000) [4]. Moreover, the frequency of B(A) gradually increases from north to south China [5].…”

Section: Introductionmentioning

confidence: 99%

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Novel missense mutation c.797T>C (p.Met266Thr) gives rise to the rare B(A) phenotype in a Chinese family

Shao,

Yang,

Xia

et al. 2024

Vox Sanguinis

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Background and ObjectivesB(A) phenotype is usually formed by nucleotide mutations in the ABO*B.01 allele, with their products exhibiting glycosyltransferases (GTs) A and B overlapping functionality. We herein report a B(A) allele found in a Chinese family.Materials and MethodsThe entire ABO genes of the probands, including flanking regulatory regions, were sequenced through PacBio third‐generation long‐read single‐molecule real‐time sequencing. 3D molecular models of the wild‐type and mutant GTB were generated using the DynaMut web server. The effect of the mutation on the enzyme function was predicted by PROVEAN and PolyPhen2. The predictions of stability changes were performed using DynaMut and SNPeffect.ResultsBased on serological and sequencing features, we concluded the two probands as possible cases of the B(A) phenotype. Crystallization analysis showed that Thr266 substitution does not disrupt the hydrogen bonds. However, some changes in interatomic contacts, such as loss of ionic interactions and hydrophobic contacts, and addition of weak hydrogen bonds, may have affected protein stability to some extent. This mutation was predicted to have a benign effect on enzyme function and slightly reduce protein stability.ConclusionThe probands had the same novel B(A) allele with a c.797T>C (p.Met266Thr) mutation on the ABO*B.01 backbone.

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Section: Introductionmentioning

confidence: 99%