Blood Center of Zhejiang Province, Jianye Road 789, Hangzhou, Zhejiang, 30052, People's Republic of China.
Key Laboratory of Blood Safety Research of Zhejiang Province, Hangzhou, Zhejiang, 310052, People's Republic of China.
J Transl Med. 2021 Nov 22;19(1):470. doi: 10.1186/s12967-021-03141-5.
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.
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.
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 A individual, while c.28 + 5G > A, c.28 + 5G > C, and c.204-1G > A were detected in B individuals. c.155 + 5G > A was detected in one B and two AB individuals, whereas c.374 + 5G > A was identified in two A 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.
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.
ABO 基因中的核苷酸突变可能会降低糖基转移酶的活性，导致红细胞中 A 或 B 抗原表达水平降低。根据红细胞免疫遗传学数据库和国际输血协会的血型术语，已经确定了六个已知的剪接位点。在这里，我们描述了六个不同的 ABO 亚型个体中的剪接位点变异。
使用常规血清学法检查 ABO 表型。使用聚合酶链反应序列基定型方法检查 ABO 基因的整个编码序列。使用等位基因特异性引物扩增或克隆技术研究 ABO 基因单倍型。使用计算机分析工具评估剪接位点变异的功能影响。
在 9 名 ABO 亚型个体中发现了 ABO 基因剪接位点的六个不同变异，包括 c.28+1_2delGT、c.28+5G>G、c.28+5G>C、c.155+5G>A、c.204-1G>A 和 c.374+5G>A。c.28+1_2delGT 存在于一个 A 个体中，而 c.28+5G>G、c.28+5G>C 和 c.204-1G>A 存在于 B 个体中。c.155+5G>A 存在于一个 B 和两个 AB 个体中，而 c.374+5G>A 存在于两个 A 个体中。在 ABO 基因中发现了三个新的剪接位点变异（c.28+1_2delGT、c.28+5G>G 和 c.28+5G>C），所有这些变异都导致抗原表达水平降低。计算机分析表明，所有变异都有可能改变剪接转录本。
在中国人群中发现了 ABO 基因中的三个新的剪接位点变异，导致 A 或 B 抗原表达降低，并形成 ABO 亚型。
