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单亲异构在亲属测试中的影响

Di Ma¹, YuMei Lin¹, RuanZhang Zhang¹

¹Forensic Evidence Laboratory, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, Guangdong 5180201, China.

Legal medicine (Tokyo, Japan)

|December 28, 2023

概括

单亲异构 (UPD) 可以通过导致错误的排除来复杂化亲属测试. 这项研究表明,结合STR分析和SNP微阵列如何能够准确地证实生物关系,尽管UPD.

科学领域:

遗传学是一个遗传学.
法医科学法医科学法医科学
分子生物学分子生物学

背景情况:

单亲分裂症 (UPD) 是一种罕见的染色体异常.
在家长测试中,UPD可能会干扰标准亲属关系分析.
准确的亲属关系确定在法医鉴定中至关重要.

研究的目的:

调查涉及UPD的亲属测试案件中的遗传发现.
防止在亲属关系分析过程中出现错误的排除.
建立可靠的方法来确定在存在UPD时的亲属关系.

主要方法:

放大了39个自体短串重复 (STR) 和23个Y染色体STR.
毛细管电泳和亲属指数计算.
单核酸多态 (SNP) 微阵列用于遗传机制研究.

主要成果:

在两个病例中确定了母体7号染色体的UPD,在一个病例中确定了2号染色体的UPD.
在父子对中观察到不兼容的STR位点,不符合孟德尔遗传,在父子对中观察到.
除了不兼容的位置证实了生物学父子关系,与三人测试相一致.

结论:

在亲属测试中,UPD使亲属判断复杂化.
当检测到同一染色体上不兼容的STR位点时,考虑UPD.
综合分子技术 (STR和SNP) 改善了亲属关系的解释,避免了错误的排除.

关键词:

亲属关系测试是一种亲属关系测试.短串联重复的重复.单个核酸多态化微阵列.一个单亲的异构.

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