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在以色列不同种族群体中,同胞性大小模式的区域:朝着量身定制的诊断报告门

Idit Maya^1,2, Michal Levy¹, Reut Matar¹

¹Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.

American journal of medical genetics. Part A

|August 16, 2024

概括

同胞性区域 (ROH) 分析显示,在总百分比和细分尺寸方面存在显著的种族差异. 针对性诊断值被建议用于在不同种群中准确的基因组解释.

科学领域:

基因组学和生物信息学
人口遗传学人口遗传学
临床诊断临床诊断临床诊断

背景情况:

使用微阵列和测序来检测同卵性区域 (ROH),但缺乏标准化的报告截止值.
了解ROH的种族变异对于基因分析中的准确解释至关重要.

研究的目的:

评估不同种族起源的总ROH百分比 (TRPS) 和ROH细分尺寸.
在ROH指标中探索潜在的种族差异.
为ROH报告提出量身定制的诊断值.

主要方法:

从2017年到2023年,对13035个微阵列数据集进行了回顾性分析.
在自体染色体上检索和分析ROH段,不包括没有ROH的样本.
根据种族起源对队列进行分类,以分析TRPS和ROH细分尺寸.

主要成果:

观察到TRPS的显著变化,从埃塞俄比亚犹太人的0.36%到贝都因人的6.42%.
在ROH细分尺寸 (10.651.5 Mb) 的99个百分位数中,在各个来源中发现了广泛的范围.
在特定的TRPS范围内,在犹太人和以色列阿拉伯/德鲁兹人群之间发现了ROH部分大小的统计学上显著差异 (1% - 9.99%).

结论:

对于ROH报告的固定绝对尺寸值可能会导致某些人群的不准确性.
建议采用量身定制的方法来定义ROH报告值,以提高基因组分析的准确性和临床相关性.
对于有效地解释ROH数据,种族特异性考虑至关重要.

关键词:

染色体微阵列分析分析人口研究人口研究同性异性性质的区域.单个核酸的多态性.

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