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PLASTIC RECONSTRUCTIVE AND REGENERATIVE SURGERY

Abstract

Background - The ABO subtypes may lead to discrepancy between the forward and reverse typing in ABO blood group identification, which are caused by variant in the ABO gene. In this study, we reported a novel A allele which resulted in Ael phenotype and the variant occured in the disordered loop.

Materials and methods - The ABO phenotyping and genotyping were performed by standard serological methods and direct DNA sequencing of ABO gene. The effect of the amnio acid substitution on the structure and function of glycosyltransferase A(GTA) was evaluated by PolyPhen-2.

Results - The serological results of the proband assigned as Ael subtype, a novel A allele with c.575T>C (p.Ile192Thr) variant on the ABO*A1.02 was identified. The PolyPhen-2 analysis showed that the amnio acid substitution (p.Ile192Thr) may reducing the stability of the protein and weaken the GTA activity.

Conclusions - We found a novel A allele with c.575T>C variant on the ABO*A1.02 background in a Chinese blood donor, which was responsible for Ael phenotype and the variant occured in the disordered loop.

 

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Authors

Hui Zhang - Blood Group Reference Laboratory, Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China https://orcid.org/0009-0001-0071-5714

Jiewei Zheng - Department of Blood Transfusion, Minhang Hospital, Fudan University, Shanghai, China https://orcid.org/0000-0001-8347-0355

Minghao Li - Blood Group Reference Laboratory, Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China https://orcid.org/0009-0004-0483-4448

Sha Jin - Blood Group Reference Laboratory, Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China

Dong Xiang - Blood Group Reference Laboratory, Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China

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