Comisaría General de Policía Científica, University Institute of Research in Forensic Sciences (IUICP), Madrid, Spain.
Forensic Sci Int Genet. 2011 Mar;5(2):146-51. doi: 10.1016/j.fsigen.2010.10.013. Epub 2010 Nov 13.
Mitochondrial DNA (mtDNA) population data for forensic purposes are still scarce for some populations, which may limit the evaluation of forensic evidence especially when the rarity of a haplotype needs to be determined in a database search. In order to improve the collection of mtDNA lineages from the Iberian and South American subcontinents, we here report the results of a collaborative study involving nine laboratories from the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) and EMPOP. The individual laboratories contributed population data that were generated throughout the past 10 years, but in the majority of cases have not been made available to the scientific community. A total of 1019 haplotypes from Iberia (Basque Country, 2 general Spanish populations, 2 North and 1 Central Portugal populations), and Latin America (3 populations from São Paulo) were collected, reviewed and harmonized according to defined EMPOP criteria. The majority of data ambiguities that were found during the reviewing process (41 in total) were transcription errors confirming that the documentation process is still the most error-prone stage in reporting mtDNA population data, especially when performed manually. This GHEP-EMPOP collaboration has significantly improved the quality of the individual mtDNA datasets and adds mtDNA population data as valuable resource to the EMPOP database (www.empop.org).
线粒体 DNA（mtDNA）种群数据对于某些人群来说仍然稀缺，这可能限制了法医证据的评估，特别是在需要在数据库搜索中确定单倍型的稀有性时。为了改进来自伊比利亚和南美洲次大陆的 mtDNA 谱系的收集，我们在此报告了西班牙和葡萄牙语工作组国际法医遗传学协会（GHEP-ISFG）和 EMPOP 的九个实验室的合作研究结果。各个实验室提供了过去 10 年来生成的人群数据，但在大多数情况下，这些数据并未向科学界公开。总共收集了来自伊比利亚（巴斯克地区、2 个普通西班牙人群体、2 个北部和 1 个中部葡萄牙人群体）和拉丁美洲（来自圣保罗的 3 个人群）的 1019 个单倍型，根据定义的 EMPOP 标准进行了审查和协调。在审查过程中发现的大多数数据歧义（共 41 个）是转录错误，这证实了文档过程仍然是报告 mtDNA 种群数据中最容易出错的阶段，特别是当手动执行时。这次 GHEP-EMPOP 合作极大地提高了个别 mtDNA 数据集的质量，并将 mtDNA 种群数据作为有价值的资源添加到 EMPOP 数据库（www.empop.org）中。
