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使用下一代测序进行RHCE基因型鉴定:等位基因特定参考序列

Wajnat A Tounsi^1,2, Amr J Halawani³, Kelly A Sillence^2,4

¹Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.

|December 22, 2024

概括

这项研究使用下一代测序为RHCE等位基因建立了新的参考序列. 内部变异为Rh基因变异和哈普洛型预测提供了一种新的诊断方法.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
免疫学免疫学免疫学

背景情况:

血型Rh系统 (ISBT004) 涉及RHD和RHCE基因,产生56种免疫原性抗原.
在输血医学中,RHD和RHCE基因的多态性具有临床意义.

研究的目的:

通过对完整的RHCE基因进行测序,建立RHD等位基因特定的参考序列.
为了识别和描述RHCE基因中的新型变异.

主要方法:

使用下一代测序 (NGS) 与离子个人基因组机器 (Ion PGM) 测序完整的RHCE基因.
通过从87个基因组DNA样本的重叠远程PCRamplicon来扩大RHCE基因.
对人类基因组参考构建hg38进行序列数据分析,以识别单核酸变异 (SNV).

主要成果:

检测编码已知RHCE变体等位基因的异构SNVs (例如,RHCE*Ce.09,RHCE*ceAR,RHCE*ceVS.03).
识别了许多与特定的Rh单元型相关的内部SNVs.
建立和GenBank提交三个新的RHCE参考序列 (对于RHCE*Ce,RHCE*cE和RHCE*ce等位基因).

结论:

内部SNVs代表了RH基因变异的潜在新型诊断方法.
内部SNVs可能有助于预测Rh单元型.
这项研究增强了对RHCE基因多态性及其临床影响的理解.

关键词:

通过RHCE基因型鉴定.在RHCE*Ce等位基因中.在RHCE*cE基因组中.在RHCE*ce基因组中.在Rh血型系统中,Rh血型是Rh.个人基因组机器.下一代测序的下一代测序.参考序列参考序列参考序列

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