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在443个外基因组测序数据中的二次发现

Marija Branković¹, Heonjong Han², Milena Janković³

¹University of Belgrade Faculty of Medicine, Belgrade, Serbia.

Annals of human genetics

|November 15, 2024

概括

外基因序列测序在17名患有神经疾病的患者中发现了17种医学可行的二次遗传变异. 这些癌症和心血管基因的发现为预防严重疾病和改善患者护理提供了潜力.

科学领域:

基因组学就是基因组学.
医学遗传学医学遗传学
临床诊断临床诊断临床诊断

背景情况:

外基组测序 (ES) 可以揭示与主要检测指示无关的二次遗传发现.
这些次要发现,特别是医学上可操作的基因,对患者护理和疾病预防具有重大潜力.

研究的目的:

评估外基因组测序对于在患有神经系统疾病的患者中识别医疗可行的二次发现的有用性.
根据美国医学遗传学院 (ACMG) 的指导方针,对变异进行分类和报告.

主要方法:

分析了81个美国医学遗传学学院 (ACMG) 在443名患有各种神经疾病的患者中使用外体序列测序的医学可操作基因.
根据2015年ACMG标准和指导方针以及ACMG关于报告二次发现的建议 (v3.2) 进行分类的鉴定变异.

主要成果:

在17名患者中检测到17个变异,跨越9个不同的基因,被归类为次要发现.
在与癌症相关的基因 (BRCA1,MSH2,PALB2),心血管基因 (MYH7,TTN,LDLR,DSC2,DSP) 和多种基因 (TTR) 中确定了异构基因变异.
将13个变种归类为已知的致病原体和4个预期致病原体.

结论:

外体序列测序有效地识别了神经疾病患者在医学上可行的二次发现.
这些发现对预防严重发病率和死亡率有影响,提供了宝贵的遗传见解.
支持将二次发现分析纳入常规遗传检测协议.

关键词:

外基因组测序是指外基因组的测序.基因测试是基因测试的方法.二次性发现二次性发现变种变种的变种

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