Department of Anthropology, University of Kansas, 622 Fraser Hall, 1415 Jayhawk Blvd, Lawrence, KS 66045, United States.
Armed Forces Medical Examiner System's Armed Forces DNA Identification Laboratory (AFMES-AFDIL), 115 Purple Heart Drive, Dover AFB, DE, 19902, United States; ARP Sciences, LLC, Contractor Supporting the Armed Forces Medical Examiner System, 9210 Corporate Boulevard, Suite 120, Rockville, MD 20850, United States.
Forensic Sci Int Genet. 2019 Nov;43:102143. doi: 10.1016/j.fsigen.2019.102143. Epub 2019 Aug 13.
Mitochondrial haplogroup information can be useful in forensic contexts that rely primarily on mitochondrial DNA (mtDNA) testing, which often involve limited or degraded DNA. Due to the phylogeographic patterning of mtDNA in human populations, mitochondrial haplogroups are indicative of maternal ancestry (as mtDNA is a maternally inherited marker). In certain circumstances, maternal ancestry inferred from mitochondrial haplogrouping could be beneficial to forensic investigations. For example, ancestry information could assist in the identification of unknown service members from past conflicts, such as the World War II Battle of Tarawa involving American and Japanese forces. In this context, it could be useful to distinguish Native American mtDNA from Asian mtDNA to bolster the anthropological and circumstantial evidence leading to an identification or foreign national determination. Although most of the founding Native American haplogroups contain diagnostic variants in the mitochondrial control region (CR), haplogroup B2 does not, and this makes it more difficult to distinguish B2 from the parental B4 and closely related B4b haplogroups found in Asia. In this paper, the amount of mtDNA information required to distinguish Native American haplotypes from Asian haplotypes within haplogroup B was examined. Fifty-six samples belonging to subtypes of B2 and B4 were sequenced for the entire mitogenome. Haplogroups were estimated from three ranges of mitochondrial DNA (HV1 and 2, CR, and full mitogenome). Half of the samples could not be precisely haplogrouped without full mitogenome data, although enough variants were often provided to make an accurate B2 versus B4 distinction. Native American B2 haplotypes were distinguishable using CR data alone in 82% of samples, though the remaining samples required full mitogenome data for haplogroup B2 designation. The use of full mitogenome data consistently enables accurate haplogroup determination, and opens the possibility for gaining information on maternal ancestry.
线粒体单倍群信息在主要依赖于线粒体 DNA（mtDNA）测试的法医学背景下可能很有用，而这种测试通常涉及有限或降解的 DNA。由于人类群体中 mtDNA 的系统地理学模式，线粒体单倍群是母系祖先的指示（因为 mtDNA 是母系遗传标记）。在某些情况下，从线粒体单倍群推断出的母系祖先可能对法医学调查有帮助。例如，祖先信息可以帮助识别过去冲突中未知的服务成员，例如涉及美国和日本军队的第二次世界大战塔拉瓦战役。在这种情况下，区分美洲原住民 mtDNA 与亚洲 mtDNA 可能有助于加强导致身份识别或外国国民身份确定的人类学和环境证据。尽管大多数美洲原住民的创始单倍群在线粒体控制区（CR）中包含诊断变体，但单倍群 B2 没有，这使得更难以将 B2 与在亚洲发现的母系 B4 和密切相关的 B4b 单倍群区分开来。本文研究了区分 B 单倍群内美洲原住民单倍型与亚洲单倍型所需的 mtDNA 信息量。对属于 B2 和 B4 亚型的 56 个样本进行了整个线粒体基因组测序。从线粒体 DNA 的三个范围（HV1 和 2、CR 和完整线粒体基因组）估计了单倍群。没有完整的线粒体基因组数据，一半的样本无法精确地进行单倍群分组，尽管通常提供了足够的变体来准确区分 B2 与 B4。在 82%的样本中，仅使用 CR 数据就可以区分美洲原住民 B2 单倍型，尽管其余样本需要完整的线粒体基因组数据才能确定 B2 单倍群。使用完整的线粒体基因组数据始终可以实现准确的单倍群确定，并为获取母系祖先信息提供了可能性。
