分子解剖在法医学中的重要性。

Q4 Medicine Casopis lekaru ceskych Pub Date : 2022-01-01
Jana Orlíčková, Martin Zeman, Tomáš Vojtíšek, Ondřej Slabý
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引用次数: 0

摘要

标准的尸检并不总能发现个人死亡的原因。它经常发生在突然死亡的病例中。死亡的原因,至少在部分悬案中,可以用分子生物学和遗传学的方法来揭示。这种方法被称为分子解剖。第一次应用是在20世纪末,当时一名年轻女子突然死亡的原因无法解释,只有在进行分子解剖后才提供。分子解剖(也称为死后基因检测)尤其适用于年轻人或婴儿猝死的情况,因为他们的死亡往往与遗传性疾病有关,例如与心脏或代谢疾病有关。在系统的发展方面,分子检测的形式已经得到了改进。最初,使用的是对少数基因的靶向分析。目前,全外显子组和全基因组测序逐渐成为分子解剖的新标准。虽然分子解剖有可能作为尸检的一个标准部分整合到尸检中,但目前它还没有成为法医尸检的一个标准化的常规部分。
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The importance of molecular autopsy in forensic medicine.

Standard autopsy does not always detect a cause of individuals death. It occurs often in cases of sudden death. The reason for decease, at least in a part of unsolved cases, can be revealed using methods of molecular biology and genetics. This approach is called molecular autopsy. First application dates to the end of 20th century when cause of sudden unexplained death of a young woman was provided only after execution of molecular autopsy. Molecular autopsy (also known as post-mortem genetic testing) finds its application particularly in cases of sudden death of young people or infants as their decease is more frequently associated with hereditary diseases linked for example to heart or metabolic conditions. In terms of methodical development, the form of molecular testing has been improved until now. Originally, targeted analysis of small number of genes was used. Nowadays, whole-exome and whole-genome sequencing slowly becomes a new standard for molecular autopsy. Although molecular autopsy has a potential to be integrated into an autopsy as a standard part of it, for now it has not become a standardised routine part of forensic autopsy.

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来源期刊
Casopis lekaru ceskych
Casopis lekaru ceskych Medicine-Medicine (all)
CiteScore
0.60
自引率
0.00%
发文量
31
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