Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes

Abstract Background Nucleotide 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 ter...

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Autores principales:	Xiaozhen Hong, Yanling Ying, Jingjing Zhang, Shu Chen, Xianguo Xu, Ji He, Faming Zhu
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	ABO subtype Splice site Variation Polymerase chain reaction sequence-based typing Medicine R
Acceso en línea:	https://doaj.org/article/ab7d180c46c343cd8924a77be47dbe15
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spelling	oai:doaj.org-article:ab7d180c46c343cd8924a77be47dbe152021-11-28T12:06:51ZSix splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes10.1186/s12967-021-03141-51479-5876https://doaj.org/article/ab7d180c46c343cd8924a77be47dbe152021-11-01T00:00:00Zhttps://doi.org/10.1186/s12967-021-03141-5https://doaj.org/toc/1479-5876Abstract Background Nucleotide 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. Methods The 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. Results Six 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 Aw individual, while c.28 + 5G > A, c.28 + 5G > C, and c.204-1G > A were detected in Bel individuals. c.155 + 5G > A was detected in one B3 and two AB3 individuals, whereas c.374 + 5G > A was identified in two Ael individuals. Three novel splice site variants (c.28 + 1_2delGT, c.28 + 5G > A and c.28 + 5G > C) in the ABO gene were discovered, all of which resulted in low antigen expression. In silico analysis revealed that all variants had the potential to alter splice transcripts. Conclusions Three 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.Xiaozhen HongYanling YingJingjing ZhangShu ChenXianguo XuJi HeFaming ZhuBMCarticleABO subtypeSplice siteVariationPolymerase chain reaction sequence-based typingMedicineRENJournal of Translational Medicine, Vol 19, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	ABO subtype Splice site Variation Polymerase chain reaction sequence-based typing Medicine R
spellingShingle	ABO subtype Splice site Variation Polymerase chain reaction sequence-based typing Medicine R Xiaozhen Hong Yanling Ying Jingjing Zhang Shu Chen Xianguo Xu Ji He Faming Zhu Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
description	Abstract Background Nucleotide 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. Methods The 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. Results Six 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 Aw individual, while c.28 + 5G > A, c.28 + 5G > C, and c.204-1G > A were detected in Bel individuals. c.155 + 5G > A was detected in one B3 and two AB3 individuals, whereas c.374 + 5G > A was identified in two Ael individuals. Three novel splice site variants (c.28 + 1_2delGT, c.28 + 5G > A and c.28 + 5G > C) in the ABO gene were discovered, all of which resulted in low antigen expression. In silico analysis revealed that all variants had the potential to alter splice transcripts. Conclusions Three 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.
format	article
author	Xiaozhen Hong Yanling Ying Jingjing Zhang Shu Chen Xianguo Xu Ji He Faming Zhu
author_facet	Xiaozhen Hong Yanling Ying Jingjing Zhang Shu Chen Xianguo Xu Ji He Faming Zhu
author_sort	Xiaozhen Hong
title	Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
title_short	Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
title_full	Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
title_fullStr	Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
title_full_unstemmed	Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes
title_sort	six splice site variations, three of them novel, in the abo gene occurring in nine individuals with abo subtypes
publisher	BMC
publishDate	2021
url	https://doaj.org/article/ab7d180c46c343cd8924a77be47dbe15
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Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes

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