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Forensic Autosomal Short Tandem Repeats and Their Potential Association With Phenotype.
Frontiers in Genetics ( IF 3.7 ) Pub Date : 2020-07-17 , DOI: 10.3389/fgene.2020.00884
Nicole Wyner 1 , Mark Barash 1, 2 , Dennis McNevin 1
Affiliation  

Forensic DNA profiling utilizes autosomal short tandem repeat (STR) markers to establish identity of missing persons, confirm familial relations, and link persons of interest to crime scenes. It is a widely accepted notion that genetic markers used in forensic applications are not predictive of phenotype. At present, there has been no demonstration of forensic STR variants directly causing or predicting disease. Such a demonstration would have many legal and ethical implications. For example, is there a duty to inform a DNA donor if a medical condition is discovered during routine analysis of their sample? In this review, we evaluate the possibility that forensic STRs could provide information beyond mere identity. An extensive search of the literature returned 107 articles associating a forensic STR with a trait. A total of 57 of these studies met our inclusion criteria: a reported link between a STR-inclusive gene and a phenotype and a statistical analysis reporting a p-value less than 0.05. A total of 50 unique traits were associated with the 24 markers included in the 57 studies. TH01 had the greatest number of associations with 27 traits reportedly linked to 40 different genotypes. Five of the articles associated TH01 with schizophrenia. None of the associations found were independently causative or predictive of disease. Regardless, the likelihood of identifying significant associations is increasing as the function of non-coding STRs in gene expression is steadily revealed. It is recommended that regular reviews take place in order to remain aware of future studies that identify a functional role for any forensic STRs.



中文翻译:

法医常染色体短串联重复序列及其与表型的潜在关联。

法医DNA分析使用常染色体短串联重复序列(STR)标记来建立失踪人员的身份,确认家族关系并将感兴趣的人员与犯罪现场联系起来。广泛接受的观点是,法医应用中使用的遗传标记不能预测表型。目前,尚无直接导致或预测疾病的法医STR变体的证明。这样的示威将有许多法律和道德影响。例如,是否有义务告知DNA供体是否在常规分析样品过程中发现了健康状况?在这篇综述中,我们评估了法医STR可能提供的信息不仅限于身份。对文献的大量检索返回了107篇文章,这些文章将法医STR与特质相关联。p值小于0.05。共有50个独特的性状与57项研究中包括的24个标记有关。据报道,TH01具有27种性状与40种不同基因型相关的关联数量最多。其中有五篇文章将TH01与精神分裂症相关联。没有发现任何关联是疾病的独立原因或预测因素。无论如何,随着基因表达中非编码STR的功能不断被发现,识别重要关联的可能性也在增加。建议定期进行审查,以保持对确定任何法医STR的功能性作用的未来研究的了解。

更新日期:2020-08-06
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