聚焦的外体序列测定在印度次大陆提供了高的诊断收益率
Arul J Duraisamy1, Ruby Liu2, Shruti Sureshkumar1
1PerkinElmer Genomics, Revvity Omics, Chennai, India.
The Journal of molecular diagnostics : JMD
|April 6, 2024
概括
印度的专注外基因组测序在33.6%的病例中确定了致病变体,有助于对罕见遗传疾病进行分子诊断. 这种具有成本效益的方法,特别是在血缘亲属群体中,提供了一种有价值的第一级遗传测试策略.
科学领域:
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
- 人口遗传学 人口遗传学
背景情况:
- 印度人口表现出高血缘关系和异质性,导致罕见遗传疾病的更大流行.
- 在印度,基因测试的可访问性受到社会经济因素的限制.
- 分子诊断对于管理罕见遗传疾病至关重要.
研究的目的:
- 评估印度人口中罕见遗传疾病的聚焦外体序列测序的诊断产量.
- 在这个队列中识别遗传变异的类型和频率,包括同卵性变异和副本数变异.
- 评估聚焦的外基因组测序作为一个具有成本效益的第一层遗传测试策略.
主要方法:
- 来自聚焦的外基组测序的下一代测序数据的分析.
- 对具有多种表型表现的个体进行有针对性的分析,并将其转诊进行基因检测.
- 调查因高血缘关系而导致的同卵性序列和副本数变异.
主要成果:
- 实现了33.6% (280/833例) 的诊断产量,识别了致病或可能致病变体.
- 同卵性变异和副本数变异在15.7%的病例中是显著的发现,与血缘关系有关.
- 在代谢和神经肌肉疾病中观察到更高的诊断产量.
- 无症状个体的载体测试在54/118例病例中产生了积极的诊断.
结论:
- 聚焦外体序列测序是印度人口罕见遗传疾病分子诊断的有效方法.
- 同胞性变异的高流行率突显出血缘关系对遗传疾病的影响.
- 聚焦的外基因组测序为全外基因组和全基因组测序提供了一个具有成本效益的替代方案,适合作为主要的遗传测试方法.
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