Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
| Autor: | Xianguo Xu, Ji He, Jingjing Zhang, Faming Zhu, Xiaozhen Hong, Shu Chen, Yanling Ying |
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| Rok vydání: | 2021 |
| Předmět: |
Variation
Immunogenetics Biology General Biochemistry Genetics and Molecular Biology ABO Blood-Group System law.invention law ABO blood group system parasitic diseases ABO subtype Humans Coding region splice Typing Alleles Polymerase chain reaction Research Haplotype Sequence Analysis DNA General Medicine Molecular biology Splice site Phenotype Polymerase chain reaction sequence-based typing Mutation Medicine Primer (molecular biology) |
| Zdroj: | Journal of Translational Medicine Journal of Translational Medicine, Vol 19, Iss 1, Pp 1-7 (2021) |
| ISSN: | 1479-5876 |
| DOI: | 10.1186/s12967-021-03141-5 |
| Popis: | BackgroundNucleotide mutations in theABOgene may reduce the activity of glycosyltransferase, resulting in lower levels of A or B antigen expression in red blood cells. Six known splice sites have been identified according to the database of red cell immunogenetics and the blood group terminology of the International Society of Blood Transfusion. Here, we describe six distinct splice site variants in individuals with ABO subtypes.MethodsThe ABO phenotype was examined using a conventional serological method. A polymerase chain reaction sequence-based typing method was used to examine the whole coding sequence of theABOgene. TheABOgene haplotypes were studied using allele-specific primer amplification or cloning technology. In silico analytic tools were used to assess the functional effect of splice site variations.ResultsSix distinct variants in theABOgene splice sites were identified in nine individuals with ABO subtypes, including c.28 + 1_2delGT, c.28 + 5G > A, c.28 + 5G > C, c.155 + 5G > A, c.204-1G > A and c.374 + 5G > A. c.28 + 1_2delGT was detected in an Awindividual, while c.28 + 5G > A, c.28 + 5G > C, and c.204-1G > A were detected in Belindividuals. c.155 + 5G > A was detected in one B3and two AB3individuals, whereas c.374 + 5G > A was identified in two Aelindividuals. Three novel splice site variants (c.28 + 1_2delGT, c.28 + 5G > A and c.28 + 5G > C) in theABOgene were discovered, all of which resulted in low antigen expression. In silico analysis revealed that all variants had the potential to alter splice transcripts.ConclusionsThree novel splice site variations in theABOgene were identified in Chinese individuals, resulting in decreased A or B antigen expression and the formation of ABO subtypes. |
| Databáze: | OpenAIRE |
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