[ABO基因变异c.917T>C对B-糖基转移酶表达和功能作用的影响]。

Q4 Medicine
Shuang Liang, Fan Wu, Yan-Lian Liang, Tong Liu, Li-Yan Sun, Yu-Qing Su
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引用次数: 0

摘要

目的:通过分析基因型与表型的相关性,探讨C . 917t . >C (p.L306P)变异对ABO*B的影响。01等位基因对b -糖基转移酶(GTB)表达和功能的影响。本研究旨在阐明该亚型发生的分子机制。方法:研究对象为ABO正、逆分型不相容的献血者标本。采用ABO血型血清学和GTB活性检测确定ABO表型。随后,采用Sanger测序和基于PacBio平台的第三代测序对ABO基因进行测序,确定单倍型序列。通过序列比对鉴定突变。建立体外细胞表达系统,评估突变位点对抗原表达的影响。结果:本研究的指标病例在ABO*B.01/ABO*O.01.01中被鉴定为B亚型,等位基因型为C . 917t >C,此前未见报道。体外表达结果显示突变细胞中GTB表达水平和总体GTB活性降低。此外,与野生型细胞相比,突变细胞在细胞膜上的B抗原表达较弱。结论:p.L306P变异是由ABO*B中C . 917t . >C突变引起的。01等位基因可能是导致红细胞表面B抗原表达减少的遗传因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Effect of the ABO Gene Variant c.917T>C on the Expression and Functional Role of B-Glycosyltransferase].

Objective: By analyzing the correlation between genotypes and phenotypes, we explored the impact of the variant c.917T>C (p.L306P) in the ABO*B.01 allele on the expression and function of B-glycosyltransferase (GTB). This study aims to elucidate the molecular mechanisms underlying the occurrence of this subtype.

Methods: The study subjects included a blood donor specimen with incompatible forward and reverse ABO typing results. ABO phenotyping was determined using ABO blood group serology and GTB activity testing. Subsequently, Sanger sequencing and third-generation sequencing based on the PacBio platform were employed to sequence the ABO gene, resulting in the determination of haplotype sequences. Mutations were identified through sequence alignment. An in vitro cell expression system was established to assess the impact of the mutation site on antigen expression.

Results: The index case in this study was identified as B subtype with the allelic genotype c.917T>C in ABO*B.01/ABO*O.01.01 , which has not been previously reported. in vitro expression results revealed decreased levels of GTB expression and overall GTB activity in the mutant cells. Furthermore, the expression of the B antigen on the cell membrane was weaker in the mutant cells compared to the wild-type cells.

Conclusion: The p.L306P variation caused by the c.917T>C mutation in the ABO*B.01 allele may be a genetic factor contributing to the reduced expression of B antigens on the surface of red blood cells.

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来源期刊
中国实验血液学杂志
中国实验血液学杂志 Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
7331
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