AI Article Synopsis
- The study aimed to analyze the genetic sequences of two women with a rare Ael blood subgroup while they were being treated for different medical conditions at a hospital in China.
- Using specialized assays and the Sanger sequencing method, it was found that patient 1 had a specific genetic variant resulting in an amino acid substitution that could affect protein function, while patient 2 had two variants leading to additional changes in their blood group-related protein.
- The findings indicate that the Ael subtypes can exhibit diverse molecular structures, and the genotypes were specifically identified for both patients, revealing distinct genetic modifications.
Article Abstract
Objective: To analyze the genetic sequences of two patients with a rare Ael blood subgroup.
Methods: Two female patients undergoing treatment respectively for adenomyoma of the uterus and gastritis at the Second Affiliated Hospital, Yuying Children's Hospital of Wenzhou Medical University in June 2019 and September 2020 were selected as the study subjects. Their Ael subtypes were identified with a saline tube agglutination assay and absorption-emission assay. Sequence of the ABO gene Ael subtypes was determined by the Sanger method. The impact of genetic variants on the structural stability of N-acetylgalactosaminyl transferase (GTA) was analyzed with PyMOL software by constructing a structure predicted model.
Results: Both patients were determined as Ael blood subgroup. Sequencing result of patient 1 was ABO*O.01.02/ABO*O.01.02, which has resulted in a p.Thr88Profs*31 amino acid substitution. The sequencing result of patient 2 was ABO*Ael.06/ABO*O.01.02, in which c.425C>T and c.467C>T variants in exon 7 have led to p.Met142Thr and p.Pro156Leu substitutions. Prediction of the protein model speculated that the p.Met142Thr not only can change the binding of GTA protein with water molecules, but also the local hydrogen bond network of GTA, which may lead to decreased enzymatic activity. By contrast, the p.Pro156Leu variant has trivial effect on the structural stability of GTA.
Conclusion: The molecular structure of Ael subtypes can be diverse. The genotypes of the two patients have been respectively determined as ABO*O.01.02/ABO*O.01.02 with a G261 deletion and ABO*Ael.06/ABO*O.01.02.
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| http://dx.doi.org/10.3760/cma.j.cn511734-20230103-00001 | DOI Listing |
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[Genetic analysis of two patients with a rare Ael subtype].
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April 2024
The Second Affiliated Hospital, Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Article Synopsis
- The study aimed to analyze the genetic sequences of two women with a rare Ael blood subgroup while they were being treated for different medical conditions at a hospital in China.
- Using specialized assays and the Sanger sequencing method, it was found that patient 1 had a specific genetic variant resulting in an amino acid substitution that could affect protein function, while patient 2 had two variants leading to additional changes in their blood group-related protein.
- The findings indicate that the Ael subtypes can exhibit diverse molecular structures, and the genotypes were specifically identified for both patients, revealing distinct genetic modifications.
Detection and phenotype analysis of a novel Ael blood group allele.
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January 2024
Department of Transfusion, Zhongshan Hospital (Xiamen), Fudan University, Xiamen, Fujian, China.
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