Dipartimento di Medicina Legale e Sanità Pubblica, Università di Pavia, via Forlanini 12, 27100 Pavia, Italy.
Forensic Sci Int Genet. 2009 Dec;4(1):21-5. doi: 10.1016/j.fsigen.2009.04.001. Epub 2009 May 6.
Mitochondrial DNA (mtDNA) U/K and J/T are sister haplogroups within the superhaplogroup R. They are both common in Europe, with a combined overall frequency similar to the one reported for H, the most common European haplogroup (40-50%). In this study, we selected 159 Italian subjects, already ascribed to U/K and J/T by RFLP typing, and assigned each mtDNA to specific clades/subclades by investigating at least one diagnostic coding region SNP. For each sister haplogroup, one multiplex PCR and one SNaPshot minisequencing reaction were set up targeting 16 U/K and 7 J/T coding region SNPs. Each mtDNA sample was clearly assigned to a specific subclade, which could be further subdivided into several minor sub-branches according to peculiar HVS I/II motifs. Such a molecular dissection of haplogroups U/K and J/T could be extremely useful to reduce the overall analysis time and labor intensive sequencing procedures in high volume forensic casework, for example when it is important to rapidly exclude samples in order to restrict the number of suspects.
线粒体 DNA（mtDNA）U/K 和 J/T 是超级单倍群 R 内的姐妹单倍群。它们在欧洲都很常见，联合出现的总体频率与最常见的欧洲单倍群 H（40-50%）相似。在这项研究中，我们选择了 159 名意大利受试者，他们已经通过 RFLP 分型被归类为 U/K 和 J/T，并且通过研究至少一个诊断编码区 SNP 将每个 mtDNA 分配到特定的支系/亚支系。对于每个姐妹单倍群，我们建立了一个多重 PCR 和一个 SNaPshot 微测序反应，针对 16 个 U/K 和 7 个 J/T 编码区 SNP。每个 mtDNA 样本都被明确分配到特定的亚支系，根据独特的 HVS I/II 基序，该亚支系可以进一步细分为几个较小的分支。这种对 U/K 和 J/T 单倍群的分子剖析对于减少大量法医案例工作中的总体分析时间和劳动密集型测序程序非常有用，例如，当重要的是要快速排除样本以限制嫌疑人数时。
