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法医DNA表型分析:利用功能上重要的骨骼单核苷酸多态性和插入缺失进行家犬品种分类和骨骼表型预测。

Forensic DNA phenotyping: Canis familiaris breed classification and skeletal phenotype prediction using functionally significant skeletal SNPs and indels.

作者信息

Raymond Patrick W, Velie Brandon D, Wade Claire M

机构信息

School of Life and Environmental Sciences, University of Sydney, Sydney, Australia.

出版信息

Anim Genet. 2022 Jun;53(3):247-263. doi: 10.1111/age.13165. Epub 2021 Dec 28.

Abstract

This review highlights a novel application of breed identification and prediction of skeletal traits in forensic investigations using canine DNA evidence. Currently, genotyping methods used for canine breed classification involve the application of highly polymorphic short tandem repeats in addition to larger commercially available SNP arrays. Both applications face technical challenges. An additional approach to breed identification could be through genotyping SNPs and indels that characterise the array of skeletal differences displayed across domestic dog populations. Research has shown that a small number of genetic variants of large effect drive differences in skeletal phenotypes among domestic dog breeds. This feature makes functionally significant canine skeletal variants a cost-effective target for forensic investigators to classify individuals according to their breed. Further analysis of these skeletal variants would enable the prediction of external appearance. To date, functionally significant genes with genetic variants associated with differences in size, bulk, skull shape, ear shape, limb length, digit type, and tail morphology have been uncovered. Recommendations of a cost-effective genotyping method that can be readily designed and applied by forensic investigators have been given. Further advances to improve the field of canine skeletal forensic DNA phenotyping include the refinement of phenotyping methods, further biological validation of the skeletal genetic variants and establishing a publicly available database for storage of allele frequencies of the skeletal genetic variants in the wider domestic dog population.

摘要

本综述重点介绍了在法医调查中利用犬类DNA证据进行品种鉴定和骨骼特征预测的新应用。目前,用于犬类品种分类的基因分型方法除了使用更大的市售SNP阵列外,还涉及应用高度多态的短串联重复序列。这两种应用都面临技术挑战。另一种品种鉴定方法可以是通过对单核苷酸多态性(SNP)和插入缺失(indel)进行基因分型,这些SNP和indel表征了家犬群体中显示的一系列骨骼差异。研究表明,少数具有较大效应的基因变异驱动了家犬品种之间骨骼表型的差异。这一特征使得具有功能意义的犬类骨骼变异成为法医调查人员根据品种对个体进行分类的经济有效目标。对这些骨骼变异的进一步分析将能够预测外观。迄今为止,已经发现了与大小、体型、头骨形状、耳朵形状、肢体长度、趾型和尾巴形态差异相关的具有功能意义的基因变异。本文给出了一种经济有效的基因分型方法的建议,该方法可供法医调查人员轻松设计和应用。在犬类骨骼法医DNA表型分析领域取得进一步进展包括完善表型分析方法、对骨骼基因变异进行进一步的生物学验证以及建立一个公开可用的数据库,用于存储更广泛家犬群体中骨骼基因变异的等位基因频率。

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