Ael亚型基因多态性研究

doi:10.3969/j.issn.1671-2587.2022.04.003

临床输血与检验 ›› 2022, Vol. 24 ›› Issue (4): 422-426.DOI: 10.3969/j.issn.1671-2587.2022.04.003

Ael亚型基因多态性研究

李晓菲, 张烨, 刘婷婷, 苗天红, 许志远

100088 北京市红十字血液中心

收稿日期:2022-03-11 出版日期:2022-08-20 发布日期:2022-08-19
通讯作者: 许志远,男,副主任技师,主要从事红细胞血型血清学和分子生物学研究,（E-mail） zhiyuanxxu@sina.com。
作者简介:李晓菲（1990-）,女,河南周口人,主管技师,硕士,主要从事血型血清学和分子免疫血液学研究,（E-mail）fantayeah@yeah.net。

Research of Ael Subgroup Gene Polymorphism

LI Xiao-fei, ZHANG Ye, LIU Ting-ting, et al

Beijing Red Cross Blood Center, Beijing 100088

Received:2022-03-11 Online:2022-08-20 Published:2022-08-19

摘要/Abstract

摘要： 目的研究Ael亚型基因多态性及对应的突变机制。方法利用试管法检测出9例疑似为Ael/AelB亚型的血液标本,分别采用吸收放散试验、实时荧光定量PCR及基因测序的方法鉴定ABO血型。通过对基因序列的分析,探讨Ael亚型等位基因的突变机制。结果 9例标本的血清学结果和基因检测结果一致。通过序列分析与比对,共发现Ael02、Ael04、Ael05和Ael10 4种等位基因,分别以基因重组、剪切拼接错误、点突变以及移码突变的方式发生突变。结论 Ael亚型具有丰富的基因多态性,并通过不同的突变机制影响A型糖基转移酶的活性,形成Ael亚型。

关键词: Ael亚型, 突变机制, 等位基因, 多态性

Abstract: Objective To study Ael subgroup gene polymorphism and correspondingly mutation mechanism. Methods 9 cases of suspected Ael/AelB subgroups detected by tube method were further identified by absorption-elution test, Real time PCR and gene sequencing for accurate ABO blood type results.Results There were 4 kinds of alleles (Ael02, Ael04, Ael05 and Ael10) detected through the nucleotide sequences analysis and alignment, which were generated by corresponding mutation mechanisms (gene recombination, splicing error, point-mutation and frameshift mutation).Conclusion The conformation of Ael subgroup show high genetic diversity and different mutation mechanisms leading to the affected activity of A glycosyltransferase.

Key words: Ael subgroup, Mutation mechanism, Allele, Polymorphism

中图分类号:

R457.1⁺1

李晓菲, 张烨, 刘婷婷, 苗天红, 许志远. Ael亚型基因多态性研究[J]. 临床输血与检验, 2022, 24(4): 422-426.

LI Xiao-fei, ZHANG Ye, LIU Ting-ting, et al. Research of Ael Subgroup Gene Polymorphism[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2022, 24(4): 422-426.

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Ael亚型基因多态性研究

Research of Ael Subgroup Gene Polymorphism

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