Torres Sandra Regina Rachadel, Uehara Clineu Julien Seki, Sutter-Latorre Ana Frederica, de Almeida Bibiana Sgorla, Sauerbier Tania Streck, Muniz Yara Costa Netto, Marrero Andrea Rita, de Souza Ilíada Rainha
Instituto Geral de Perícias de Santa Catarina, Florianópolis, Brazil.
Mol Biol Rep. 2014 Aug;41(8):5429-33. doi: 10.1007/s11033-014-3414-0. Epub 2014 Jun 12.
The application of DNA technology in forensic investigations has grown rapidly in the last 25 years and with an exponential increase of short tandem repeats (STRs) data, usually presented as allele frequencies, that may be later used as databases for forensic and population genetics purposes. Thereby, classes of molecular markers such as single nucleotide polymorphisms and insertions/deletions (InDels) have been presented as another option of genetic marker sets. These markers can be used in paternity cases, when mutations in STR polymorphisms are present, as well as in highly degraded DNA analysis. In the present study, the allele frequencies and heterozygosity (H) of a 30 InDel markers set were determined and the forensic efficacy was evaluated through estimation of discrimination power (DP), match probability, typical paternity index and power of paternity exclusion in 108 unrelated volunteers from the State of Santa Catarina (South Brazil). The observed H per locus showed a range between 0.370 and 0.574 (mean = 0.479). HLD128 was the locus with the highest DP (DP = 0.656). DP for all markers combined was greater than 99.9999999999646 % which provides satisfactory levels of information for forensic demands. Genetic comparisons (exact tests of population differentiation and pairwise genetic distances) revealed that the population of Santa Catarina State differs from Korea and USA Afro-American populations but is similar to the Portuguese, German, Polish, Spanish and Basque populations.
在过去25年里，DNA技术在法医调查中的应用迅速发展，随着短串联重复序列（STRs）数据呈指数级增长，这些数据通常以等位基因频率呈现，随后可作为法医和群体遗传学目的的数据库使用。因此，诸如单核苷酸多态性和插入/缺失（InDels）等分子标记类别已被视为遗传标记集的另一种选择。这些标记可用于亲子鉴定案件（当存在STR多态性突变时）以及高度降解DNA的分析。在本研究中，测定了一个包含30个InDel标记的等位基因频率和杂合度（H），并通过估计来自巴西南部圣卡塔琳娜州的108名无关志愿者的鉴别力（DP）、匹配概率、典型父权指数和父权排除力来评估法医效能。每个位点观察到的H在0.370至0.574之间（平均值 = 0.479）。HLD128是DP最高的位点（DP = 0.656）。所有标记组合的DP大于99.9999999999646%，这为法医需求提供了令人满意的信息水平。遗传比较（群体分化的精确检验和成对遗传距离）表明，圣卡塔琳娜州的人群与韩国和美国非裔人群不同，但与葡萄牙、德国、波兰、西班牙和巴斯克人群相似。
