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优化同源序列对齐用于识别21-基酶缺乏症中的CYP21A2变体,使用下一代测序技术

Yibo Chen¹, Qi Yu², Lisha Ge^3,4

¹Department of Clinical Laboratory, Women and Children's Hospital of Ningbo University, Ningbo, 315012, People's Republic of China.

Risk management and healthcare policy

|September 22, 2025

概括

一个新的同源序列分析 (HSA) 算法使用下一代测序准确检测CYP21A2突变. 这种方法提高了21-基酶缺乏症的诊断准确度,并且可以应用于其他同源基因家族.

科学领域:

遗传学是一个遗传学.
生物信息学是一种生物信息学.
分子生物学分子生物学

背景情况:

CYP21A2基因对21-基酶的产生至关重要,突变导致21-基酶缺乏.
由于CYP21A2与其假基因CYP21A1P之间具有很高的同质性,因此使用标准测序方法对准确的突变检测提出了挑战.

研究的目的:

开发和验证一种新的同源序列分析 (HSA) 算法,用于增强CYP21A2突变检测.
通过先进的测序技术,提高21-基酶缺乏症的诊断准确度.

主要方法:

在怀疑21-基酶缺乏症的100名参与者身上使用下一代测序 (NGS).
开发了一种同源序列对齐 (HSA) 算法,用于分析同源区域中的序列读取比率.
通过使用远程PCR或多重结依赖探头放大 (MLPA) 验证已识别的变异.

主要成果:

该HSA算法在CYP21A2中发现了107种致病突变,包括SNV,indel,CNV和融合突变.
检测到八个CYP21A2-CYP21A1P基因转换,实现突变检测的96.26%的积极预测值.
常见的突变包括c.955C > T,c.844G > T,以及外子级缺失.

结论:

通过短读NGS数据,HSA算法可以在高度同源的CYP21A2基因中准确检测突变.
这种方法可以扩展到其他同源基因家族,如HBA1/HBA2,SMN1/SMN2和GBA/GBAP1,从而提高基因测试能力.

关键词:

缺少21-基酶的情况在CYP21A2中.在HSA算法中,HSA算法融合突变突变融合突变具有高度同质性的序列.下一代测序的下一代测序.

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