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在采用大规模并行测序的父系测试中分析同卵性等位基因不匹配

He Ren^1,2, Jiarong Zhang^3,4, Tingting Yang^3,4

¹Shanghai Key Lab of Forensic Medicine, Key Lab of Forensic Science, Ministry of Justice, Academy of Forensic Science, Shanghai, P. R. China.

Electrophoresis

|December 1, 2023

概括

大规模并行测序 (MPS) 通过揭示序列差异来解决短串重复 (STR) 的基因不匹配,而不是基于长度的毛细血管电泳. 这种先进的方法提高了解释复杂遗传资料的准确性.

科学领域:

法医遗传学法医遗传学
分子生物学分子生物学
人类识别人类识别

背景情况:

短串重复 (STR) 基因不匹配在父亲测试中很常见.
基于毛细电泳 (CE) 的STR基因定型,虽然是标准的,但无法检测相同大小的等位基因的序列变异.
大规模并行测序 (MPS) 为解决这些差异提供了增强的能力.

研究的目的:

调查MPS在解释在常规父性测试中观察到的等位基因不匹配方面的实用性.
区分非放大和突变作为不匹配的原因.
评估MPS对父亲测试解释准确性的影响.

主要方法:

分析了11个通过CE.发现的同卵性等位基因不匹配的父性测试病例.
使用ForenSeq DNA签名准备套件和MiSeq FGx测序系统对样品进行测序.
对CE和MPS结果进行比较,以确定不匹配的根本原因.

主要成果:

在几个案例中,MPS确定了序列差异是导致等位基因不匹配的原因.
五个涉及STR位点D5S818和D8S1179的病例和一个涉及D13S317的病例被归类为非放大事件.
另外三个病例归因于突变,另外两个病例也被定义为突变.

结论:

MPS提供关键的序列信息,补充了基于长度的STR分析.
这种先进的技术提高了解释父性测试中的等位基因不匹配的准确性.
在法医案例工作中,MPS促进了对遗传变异的更全面的理解.

关键词:

同性异质的等位基因不匹配大规模并行测序.突变是一种突变.测试父亲身份的测试.短串联重复重复的重复

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