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佛兰德人口数据及高变四核苷酸重复序列位点D12S1090的序列结构

Flemish population data and sequence structure of the hypervariable tetranucleotide repeat locus D12S1090.

作者信息

Mertens G, Mommers N, Boutrand L, Gielis M, Vandenberghe A

机构信息

Antwerp Blood Transfusion Centre, Edegem, Belgium.

出版信息

Int J Legal Med. 2001 Aug;115(1):40-4. doi: 10.1007/s004140100227.

DOI:10.1007/s004140100227
PMID:11599767
Abstract

The allele frequency and sequence structure of the STR locus D12S1090 were investigated in 598 Flemish individuals. The locus shows a complex organisation with repetitions of GATA interrupted by TA and other tetra- and pentanucleotide blocks. No deviation from Hardy-Weinberg equilibrium was observed. The extensive polymorphism makes it a powerful tool for identity as well as paternity testing and even permits differentiation of closely related populations, such as Flemish and Germans. D12S1090 seems to be one of the most informative STRs, however, as seen in other highly variable STRs, the observed mutation frequency of 5.1 x 10(-3), is relatively high. of STR loci is typing highly polymorphic STRs such as ACTBP2 [3]. We thus investigated the tetranucleotide (GATA) repeat locus D12S1090 (GDB accession number GDB:376560, also known as GATA5A09) in a population sample from Flanders, the Dutch speaking part of Belgium. Although this STR is considered to be highly polymorphic [4], compared with other STRs, it has only scarcely been studied.

摘要

在598名弗拉芒人中对STR基因座D12S1090的等位基因频率和序列结构进行了研究。该基因座呈现出复杂的结构,由GATA重复序列被TA以及其他四核苷酸和五核苷酸模块打断。未观察到偏离哈迪-温伯格平衡的情况。广泛的多态性使其成为身份鉴定以及亲子鉴定的有力工具,甚至能够区分关系密切的人群,如弗拉芒人和德国人。D12S1090似乎是信息含量最高的STR之一,然而,正如在其他高度可变的STR中所见,观察到的5.1×10⁻³的突变频率相对较高。STR基因座分型的研究对象是高度多态的STR,如ACTBP2[3]。因此,我们在来自比利时讲荷兰语地区弗拉芒的人群样本中研究了四核苷酸(GATA)重复基因座D12S1090(GDB登录号GDB:376560,也称为GATA5A09)。尽管该STR被认为具有高度多态性[4],但与其他STR相比,对其研究甚少。

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