新证据支持女性在患有先天性异常和神经发育障碍的患者中具有保护作用
Nela Maksimovic1, Tatjana Damnjanovic1, Biljana Jekic1
1Institute of Human Genetics, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.
Early human development
|April 30, 2025
概括
女性更有可能从染色体微阵列分析中获得遗传诊断,即使男性更经常被提及. 这项研究强调了诊断副本数变异 (CNV) 和相关疾病的性别差异.
科学领域:
- 遗传学 是一个遗传学.
- 人类生物学 人类生物学
- 发展生物学 发展生物学
背景情况:
- 染色体性别影响人类疾病,但这还不足以研究,特别是在早期发育障碍方面.
- 性染色体或自体的拷贝数变异 (CNVs) 可以改变基因表达,并导致性别偏差疾病的流行.
- 染色体微阵列 (CMA) 是 CNV 的关键诊断工具,在先天性异常和神经发育障碍中产量为 ~15%.
研究的目的:
- 使用CMA调查表型流行率和CNV检测率中的性别差异.
- 识别性别偏差的特征和与男性和女性不同疾病患病率相关的特定CNV.
- 探索并发症对跨性别诊断产量的影响.
主要方法:
- 对1412名转诊CMA的患者队列的分析.
- 男女推率和诊断产量的比较.
- 基于表型复杂性 (并发症数量) 和特定条件 (先天性心脏病,泌尿器官异常,自闭症谱系障碍) 的诊断产量的分层.
主要成果:
- 尽管女性人数较少 (1.6:1男女比),但她们的诊断收益率明显高于CMA.
- 在女性中,更高的诊断产量在具有更简单表型 (≤2并发症) 的患者中尤为明显.
- 对于先天性心脏病,泌尿器官异常和自闭症谱系障碍,女性的诊断产量更高,这些疾病在男性中更为普遍.
结论:
- 在CMA的基因诊断率中存在性别差异,尽管转诊率较低,但女性受益更多.
- 这些发现支持在某些条件下女性的责任门更高的模型,这表明有复杂的性别特异性遗传和生物因素.
- 对性别影响的遗传变异进行进一步的研究对于理解和诊断一系列人类疾病至关重要.
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