Suppr超能文献

巴西南部圣卡塔琳娜州人群中30个常染色体插入缺失标记的群体遗传数据和法医学参数

Population genetic data and forensic parameters of 30 autosomal InDel markers in Santa Catarina State population, Southern Brazil.

作者信息

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

机构信息

Instituto Geral de Perícias de Santa Catarina, Florianópolis, Brazil.

出版信息

Mol Biol Rep. 2014 Aug;41(8):5429-33. doi: 10.1007/s11033-014-3414-0. Epub 2014 Jun 12.

Abstract

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.

摘要

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。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验