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使用Mentype Argus X-8 PCR扩增试剂盒对八个X染色体短串联重复序列位点进行群体遗传评估。

Population genetic evaluation of eight X-chromosomal short tandem repeat loci using Mentype Argus X-8 PCR amplification kit.

作者信息

Becker Dorit, Rodig Heike, Augustin Christa, Edelmann Jeanett, Götz Frank, Hering Sandra, Szibor Reinhard, Brabetz Werner

机构信息

Biotype AG, Moritzburger Weg 67, 01109 Dresden, Germany.

出版信息

Forensic Sci Int Genet. 2008 Jan;2(1):69-74. doi: 10.1016/j.fsigen.2007.08.013. Epub 2007 Sep 29.

Abstract

The evaluation of four pairs of X-chromosomal short tandem repeats (STRs), i.e. DXS10135-DXS8378, DXS7132-DXS10074, HPRTB-DXS10101 and DXS7423-DXS10134 was carried out using the Argus X-8 Multiplex amplification kit. These eight STRs are distributed as four closely linked pairs over the entire X-chromosome (ChrX), and for practical reasons they are assigned to four linkage groups 1-4. The genetic distance within the STR pairs is assumed to be <1cM, whereas the pair to pair space is about 50 cM or more. Here, we present single STR allele frequencies, haplotype frequencies of the respective STR pairs and further population genetic parameters of forensic interest. Most data refer to a German population, however small samples from Ghana and Japan were also investigated. Furthermore, sequencing of all STR loci displayed the presence of microvariant alleles and variations in the repeat flanking region. A total of 350 meioses investigated here revealed only one sperm DXS7132 mutation. For analysis of linkages within the STR pairs a study involving 104 female meiosis with respect to recombination events was performed. The STR panel presented here provides a powerful tool for solving complex kinship in the case that X-chromosomal lineages can be taken under investigation.

摘要

使用阿格斯X-8多重扩增试剂盒对四对X染色体短串联重复序列(STR)进行了评估,即DXS10135-DXS8378、DXS7132-DXS10074、HPRTB-DXS10101和DXS7423-DXS10134。这八个STR作为四个紧密连锁的对分布在整个X染色体(ChrX)上,出于实际原因,它们被分配到四个连锁群1-4。STR对中的遗传距离假定小于1厘摩,而对与对之间的间隔约为50厘摩或更大。在此,我们呈现了各个STR的单等位基因频率、各个STR对的单倍型频率以及其他法医学相关的群体遗传参数。大多数数据来自德国人群,不过也对来自加纳和日本的小样本进行了研究。此外,对所有STR位点的测序显示存在微变异等位基因以及重复侧翼区域的变异。此处共研究了350次减数分裂,仅发现一例精子DXS7132突变。为了分析STR对中的连锁关系,针对重组事件进行了一项涉及104次女性减数分裂的研究。本文呈现的STR面板为在可对X染色体谱系进行调查的情况下解决复杂亲缘关系提供了一个强大的工具。

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