单亲异构在法医亲属测试中的影响:父异构在染色体3上的病例研究
Hannah Fontanil1, Sharlize Pedroza Matute1,2, Thomas Haizel2
1School of Natural Sciences, University of Lincoln, Lincoln, UK.
Journal of forensic sciences
|November 3, 2025
概括
单亲异构 (UPD),其中两个染色体来自一个父母,可以在法医亲属测试中引起错误. 这项案例研究证实了父异位症,显示了UPD影响关系测试的准确性,特别是对母子和次要关系.
科学领域:
- 法医遗传学 法医遗传学
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- 单亲分裂性 (UPD) 是一种罕见的遗传模式,其中一个人从单亲父母那里接收了两个同类染色体.
- UPD可以使遗传分析复杂化,特别是在法医亲属测试中,因为它会导致孟德尔的不一致性.
- 识别UPD对于在法律和家庭调查中准确解释遗传数据至关重要.
研究的目的:
- 为了调查在亲属测试中观察到的孟德尔不一致性.
- 为了确定母亲和孩子之间的差异的潜在遗传原因.
- 评估单亲异性对法医亲属关系分析可靠性的影响.
主要方法:
- 自体短串重复 (STR) 类型为初始亲属确认.
- 下一代测序 (NGS) 用于STR测序.
- 在所有三组样本中进行单核酸多态 (SNP) 微阵列测试.
- 对3号染色体的分析,包括4个STR和273个SNP.
主要成果:
- 使用STR类型,亲属性得到了高概率 (>99.99%) 的确认.
- 在孩子身上发现了染色体3的完整的父性异分体.
- 尽管进行了广泛的STR局部分析,但母亲和次要关系分析得出了不确定的或错误的结果.
结论:
- 单亲异体,特别是对3号染色体的完整父异体,在孩子身上得到证实.
- UPD显著影响了法医亲属测试的准确性,这导致了对母亲和次要关系评估的潜在误解.
- 法医科学家必须警染色体不一致,并利用软件警报来减轻与UPD相关的误解风险.
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