Suppr超能文献

德国和波罗的海人群中的X染色体21插入缺失标记面板。

X-chromosomal 21-indel marker panel in German and Baltic populations.

作者信息

Edelmann Jeanett, Kohl Michael, Dressler Jan, Hoffmann Andre

机构信息

Institute of Legal Medicine, University of Leipzig, Leipzig, Germany.

出版信息

Int J Legal Med. 2016 Mar;130(2):357-60. doi: 10.1007/s00414-015-1221-3. Epub 2015 Jul 12.

Abstract

In order to verify specific biallelic X-indels and their characteristic properties in distinct populations, one German and three Baltic population groups (Estonia, Latvia, and Lithuania) have been analyzed by a short amplicon method, which also enables detection of degraded DNA samples. To combine 21 indels in a single multiplex PCR, all products were arranged according to their expected amplicon length (~40-160 bp) on the basis of three different fluorochromes. Separation of PCR products was carried out in a single capillary electrophoresis. Data evaluating was performed including five further indel markers which have already been tested in identical samples, resulting in altogether 26 markers. The majority of the genetic material showed combinations of insertion elements (L-fragments). Combinations of deletion elements (S-fragments) in contrast occurred with significant lower ratios. Hardy-Weinberg equilibrium (HWE) was observed for all markers except for MID1361 and MID329. This was attributed to an insufficient number of samples. For two known linkage groups within the 26-indel set (MID357-MID356 and MID3690-MID3719-MID2089), haplotype data were determined. A pairwise comparison of German and Baltic allele frequencies did not show significant deviation. This result indicates a possible genetic association between all four population groups. The calculated biostatistical parameters show high forensic efficiency for this set of indel markers. In a segregation analysis investigating 194 meiosis, no mutations have been detected regarding expected transmission patterns.

摘要

为了验证不同人群中特定的双等位基因X插入缺失及其特征属性,采用短扩增子方法对一个德国人群组和三个波罗的海人群组(爱沙尼亚、拉脱维亚和立陶宛)进行了分析,该方法还能够检测降解的DNA样本。为了在单个多重PCR中合并21个插入缺失,根据三种不同荧光染料,将所有产物按照其预期扩增子长度(约40 - 160 bp)进行排列。PCR产物在单次毛细管电泳中进行分离。进行了数据评估,包括另外五个已在相同样本中测试过的插入缺失标记,总共得到26个标记。大多数遗传物质显示出插入元件(L片段)的组合。相比之下,缺失元件(S片段)的组合出现比例显著较低。除MID1361和MID329外,所有标记均观察到哈迪-温伯格平衡(HWE)。这归因于样本数量不足。对于26个插入缺失集合中的两个已知连锁群(MID357 - MID356和MID3690 - MID3719 - MID2089),确定了单倍型数据。德国和波罗的海等位基因频率的成对比较未显示出显著偏差。该结果表明所有四个人群组之间可能存在遗传关联。计算得到的生物统计学参数表明这组插入缺失标记具有很高的法医鉴定效率。在一项调查194次减数分裂的分离分析中,未检测到与预期传递模式相关的突变。

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