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在结构化人群中建立短串联重复序列(STR)数据库:南西伯利亚原住民与俄罗斯人群的对比

Developing STR databases on structured populations: the native South Siberian population versus the Russian population.

作者信息

Zhivotovsky Lev A, Malyarchuk Boris A, Derenko Miroslava V, Wozniak Marcin, Grzybowski Tomasz

机构信息

Institute of General Genetics, The Russian Academy of Sciences, Gubkin Str. 3, Moscow 119991, Russia.

出版信息

Forensic Sci Int Genet. 2009 Sep;3(4):e111-6. doi: 10.1016/j.fsigen.2008.08.001. Epub 2008 Sep 12.

Abstract

Developing a forensic DNA database on a population that consists of local ethnic groups separated by physical and cultural barriers is questionable as it can be genetically subdivided. On the other side, small sizes of ethnic groups, especially in alpine regions where they are sub-structured further into small villages, prevent collecting a large sample from each ethnic group. For such situations, we suggest to obtain both a total population database on allele frequencies across ethnic groups and a list of theta-values between the groups and the total data. We have genotyped 558 individuals from the native population of South Siberia, consisting of nine ethnic groups, at 17 autosomal STR loci of the kit packages AmpFlSTR SGM Plus i, Cyrillic AmpFlSTR Profiler Plus. The groups differentiate from each other with average theta-values of around 1.1%, and some reach up to three to four percent at certain loci. There exists between-village differentiation as well. Therefore, a database for the population of South Siberia is composed of data on allele frequencies in the pool of ethnic groups and data on theta-values that indicate variation in allele frequencies across the groups. Comparison to additional data on northeastern Asia (the Chukchi and Koryak) shows that differentiation in allele frequencies among small groups that are separated by large geographic distance can be even greater. In contrast, populations of Russians that live in large cities of the European part of Russia are homogeneous in allele frequencies, despite large geographic distance between them, and thus can be described by a database on allele frequencies alone, without any specific information on theta-values.

摘要

在一个由因自然和文化障碍而分隔的当地族群组成的人群中建立法医DNA数据库是有问题的,因为该人群在基因上可能存在细分。另一方面,族群规模较小,尤其是在高山地区,这些地区进一步细分为小村庄,这使得无法从每个族群中采集大量样本。针对这种情况,我们建议获取一个关于各民族等位基因频率的总体数据库,以及各群体与总体数据之间的θ值列表。我们对来自南西伯利亚原住民的558个人进行了基因分型,这些人由九个族群组成,检测了试剂盒AmpFlSTR SGM Plus i、西里尔文AmpFlSTR Profiler Plus中的17个常染色体STR位点。这些群体之间的平均θ值约为1.1%,在某些位点上,有些群体的θ值高达三到四个百分点。村与村之间也存在差异。因此,南西伯利亚人群的数据库由族群库中等位基因频率的数据以及表明各群体间等位基因频率差异的θ值数据组成。与东北亚(楚科奇人和科里亚克人)的其他数据比较表明,被大地理距离分隔的小群体之间等位基因频率的差异可能更大。相比之下,生活在俄罗斯欧洲部分大城市的俄罗斯人群体,尽管他们之间地理距离很远,但等位基因频率却是同质的,因此仅用一个关于等位基因频率的数据库就可以描述,而无需任何关于θ值的特定信息。

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