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两种基于NGS的产品概念型化平台的比较分析

Yuri Murase¹, Yui Shichiri¹, Hidehito Inagaki¹

¹Division of Molecular Genetics, Center for Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470-1192, Japan.

|August 29, 2024

概括

低覆盖全基因组测序 (lcWGS) 为分析受孕产物 (POC) 染色体异常的传统方法提供了可行的替代方案. 两种测试的下一代测序 (NGS) 系统都为POC型定型提供了同等的诊断结果.

科学领域:

生殖遗传学生殖遗传学
基因组学就是基因组学.
细胞遗传学细胞遗传学

背景情况:

精确的细胞遗传分析产物受孕 (POC) 对于识别染色体异常至关重要,指导遗传测试决策.
传统的G带显微镜用于POC评估,由于细胞培养问题,容易出现检测失败.
使用下一代测序 (NGS) 的低覆盖全基因组测序 (lcWGS) 正成为POC分析的有希望的替代方案.

研究的目的:

在POC样本中对lcWGS进行两种不同的基于NGS的协议进行比较分析.
评估Illumina VeriSeq和Thermo Fisher ReproSeq系统用于POC细胞基因组分析的诊断等价性.
为了调查在女性POC样本中观察到的X染色体读数的差异.

主要方法:

对两种短读NGS平台 (Illumina VeriSeq/MiSeq和Thermo Fisher ReproSeq/Ion S5) 对lcWGS进行比较分析.
分析了20个产品的概念 (POC) 样本.
光现场杂交 (FISH) 分析以排除马赛克主义.
纳米孔测序以评估DNA甲基化状态.

主要成果:

基于NGS的两种lcWGS系统都为所有20个POC样本提供了同等的细胞基因组诊断.
在一些女性样本中观察到减少的X染色体序列读数,被确定为与X染色体失活相关的技术工件,而不是低级别的马赛克主义.
纳米孔测序证实了X染色体人工物在DNA样本中占主导地位的非甲基化.

结论:

对于lcWGS进行测试的两种NGS系统都是有效的和可比的POC karyotyping替代方案.
来自这些NGS方法的X染色体数据需要仔细解释,因为与X染色体不活化相关的潜在人工物.
建议进一步验证,特别是对女性POC样本的X染色体分析.

关键词:

没有NGS,没有NGS.一个X染色体是X染色体.型是一种型.甲基化疗法甲基化疗法概念的产品的概念的产品.

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