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使用 Argus X-12 对格陵兰人、丹麦人和索马里人进行 12 个 X-STR 分析。

Analysis of 12 X-STRs in Greenlanders, Danes and Somalis using Argus X-12.

机构信息

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.

出版信息

Int J Legal Med. 2012 Jan;126(1):121-8. doi: 10.1007/s00414-011-0609-y. Epub 2011 Sep 2.

Abstract

X-chromosome markers have become a useful set of markers of choice when certain complex kinship cases need to be unravelled. The Argus X-12 kit allows the co-amplification in a single PCR reaction of 12 X-chromosome short tandem repeats located in four linkage groups. A number of 507 unrelated individuals from Greenland, Denmark and Somalia together with two generation families were typed using the Argus X-12 kit. Silent alleles for the DXS10148 and DXS10146 systems were observed in males, mostly from Somalia. High levels of intrapopulation variability and therefore high forensic parameter values were calculated for the three studied populations. The population in Greenland showed a significantly lower intrapopulation variability and a high genetic differentiation compared with 13 other populations. Significant levels of linkage disequilibrium were observed between markers belonging to the same linkage group, mainly in the populations in Greenland and Somalia. Family studies allowed the calculation of mutation and recombination frequencies. A higher male versus female mutation rate was obtained, with an average value of 3.3 × 10(-3). Recombination fraction calculations performed on two generation families showed, as previously described, a not complete independence between X-chromosome linkage groups 3 and 4.

摘要

X 染色体标记已成为一种有用的选择标记,用于解决某些复杂的亲缘关系案例。Argus X-12 试剂盒允许在单个 PCR 反应中同时扩增位于四个连锁群中的 12 个 X 染色体短串联重复序列。使用 Argus X-12 试剂盒对来自格陵兰、丹麦和索马里的 507 名无关个体以及两个世代的家族进行了分型。在男性中观察到 DXS10148 和 DXS10146 系统的沉默等位基因,主要来自索马里。在三个研究人群中计算出了高水平的种群内变异性和因此高的法医参数值。与其他 13 个群体相比,格陵兰的人群表现出显著较低的种群内变异性和较高的遗传分化。属于同一连锁群的标记之间观察到显著的连锁不平衡,主要在格陵兰和索马里的人群中。家族研究允许计算突变和重组频率。获得了较高的男性与女性突变率,平均为 3.3×10(-3)。对两代家族进行的重组分数计算显示,正如先前所述,X 染色体连锁群 3 和 4 之间不完全独立。

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