Ael亚型基因多态性研究

Research of Ael Subgroup Gene Polymorphism

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Ael104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。

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.