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多组织基因组阵列在诊断与神经发育延迟相关的色素马赛克的临床实用性

Yanca G Oliveira¹, Marilia M Montenegro¹, Vanessa T Almeida¹

¹Laboratório de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

The Journal of molecular diagnostics : JMD

|October 6, 2025

概括

由于单组织测试的局限性,基因组马赛克主义经常被忽视. 多组织细胞基因组分析通过检测马赛克变异显著提高了罕见发育障碍的诊断率.

科学领域:

遗传学遗传学是一个
基因组医学是基因组医学.
发展生物学发展生物学

背景情况:

基因组马赛克主义经常被诊断不足.
可变组织分布和单个组织测试极限检测.
识别马赛克变体对于理解基因型-表型关系至关重要.

研究的目的:

评估多组织细胞基因组分析在患有色素马赛克和全球发育迟缓的患者的诊断产量.
为了确定这个群体中马赛克变体的流行率和类型.
评估分析外周血液,皮肤纤维细胞和口腔粘膜的好处.

主要方法:

使用G频段胆型和阵列 (Infinium CytoSNP-850K) 的DNA分析.
分析的样本包括21名患者的外周血液,皮肤纤维细胞和口腔粘膜.
基于组织分布和类型 (数字,副本号,结构) 的变异的分类.

主要成果:

总体诊断率达到了62%.
在77%的阳性病例中检测到马赛克主义,变异性等位基因分数低至15%.
多组织采样仅在纤维细胞DNA中发现了变异,突出了其诊断价值,特别是在动脉质症中.

结论:

多组织细胞基因组分析提高了对基因组马赛克的检测灵敏度.
建议将这些方法常规纳入罕见发育障碍的诊断工作流程.
这种方法提高了诊断率,并使精确的基因型-表型相关性成为可能.

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