ArticleJournal of translational medicine2021
Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.
Article in Journal of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Identification of a novel A allele with a c.374 + 3_374 + 6delAAGT splicing variant in a Chinese individual.Transfusion · 2026Article
- A novelFrontiers in genetics · 2026Article
- c.98 + 3A>G and c.155 + 1G>T splice-site variants in theFrontiers in immunology · 2026Article
- Simultaneous high throughput genotyping of 36 blood group systems using NGS based on probe capture technology.Heliyon · 2024Article
- Characterization of a novelFrontiers in immunology · 2024Article
- Analysis of the Genomic Sequence ofFrontiers in immunology · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNucleotide mutations in the ABO gene 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 the ABO gene. The ABO gene 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 the ABO gene 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 A
conclusionsThree novel splice site variations in the ABO gene were identified in Chinese individuals, resulting in decreased A or B antigen expression and the formation of ABO subtypes.
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