从全基因组测序中与Y-SNV进行前所未有的男性相对差异化
Dion Zandstra1, Arwin Ralf1, Zeliha Ozgur2
1Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.
法医Y-STR分析难以区分密切相关的男性. 这项研究表明,Y染色体单核酸变体 (Y-SNVs) 通过全基因组测序 (WGS) 显著改善分化,优于快速突变的Y-STRs.
科学领域:
- 法医遗传学 法医遗传学
- 人口遗传学 人口遗传学
- 分子生物学分子生物学
背景情况:
- 法医Y-STR分析识别男性血统,而不是个人,限制了其在区分密切相关的男性时的使用.
- 快速突变的Y-STRs (RM Y-STRs) 提供了更好的歧视,但仍然面临着与非常接近的亲属的局限性.
- 现有的RM Y-STR发现方法不太可能使有用的标记物显著增加.
研究的目的:
- 探索通过全基因组测序 (WGS) 识别的Y染色体单核酸变体 (Y-SNVs),作为区分男性亲属的替代方案.
- 评估WGS技术的可行性,以区分近亲和远亲的雄性.
- 为了比较Y-SNV与现有的Y-STR和RMY-STR标记器的歧视力.
主要方法:
- 全基因组测序 (WGS) 来自三个血统的24名男性的DNA样本.
- 对12对父子对和72对远距离的男性亲属 (8-15个半月相隔) 的分析.
- 鉴定和分析Y-SNVs和Y-STR突变,在每个样本的Y染色体中大约25 Mbp.
主要成果:
- 在76个分析的半位分裂中,确定了90个男性相对差异化的Y-SNV.
- 50%的父子对仅仅通过Y-SNVs进行了差异化;与CE方法相结合时为75%.
- 所有远程男性亲属对均以Y-SNV和RM Y-STR区分;WGS显示,与RMplex相比,父子对的突变增加了1.7倍,远程亲属的突变增加了4倍.
结论:
- 通过WGS识别的Y-SNV是可行的,并且对于区分近亲和远亲男性来说非常有价值.
- 与以前使用的RM Y-STR标记和RMplex方法相比,WGS衍生的Y-SNV显示出更高的性能.
- 将WGS衍生的Y-SNV与传统的Y-STR分析结合起来,可以增强男性的相对差异化,将WGS定位为具有挑战性的法医案件的首选方法.
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