Genetic analysis of type 2 tri-allelic pattern at TPOX locus in the Chinese Han population
Genetic analysis of type 2 tri-allelic pattern at TPOX locus in the Chinese Han population
复制标题
中国汉族人群TPOX位点2型三等位基因模式的遗传分析
DOI：
10.1007/s00438-020-01679-5
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发表时间：
2020-05-01
影响因子：
3.1
通讯作者：
Xie, Jianhui
中科院分区：
文献类型：
--
作者：
Yang, Qinrui;Li, Min;Xie, Jianhui
三等位基因模式，偶尔可以观察到在日常法医实践中的短串联重复序列（STR）的分析。在以前的研究中，TPOX的2型三等位基因模式在非洲和巴西人群中得到了广泛的研究。在这项研究中，我们调查的发病率，重排和遗传的2型三等位基因模式在TPOX基因座在中国汉族人群。中国汉族人群TPOX位点2型频率约为0.0189%，主要额外等位基因为等位基因11。结果表明，该群体存在两种主要的等位基因组合，即8/11和11/12，与非洲和巴西群体的等位基因组合不同。在中国汉族人群TPOX的2型模式中，观察到等位基因11和12之间的紧密连锁，而额外拷贝在2号染色体上的位置被验证，这表明相同的祖先起源。过量等位基因组合8/11意味着同源和紧密连锁关系。然而，重排的2型模式与8/11等位基因组合仍然未知。总之，这些结果显示了中国汉族人群中TPOX基因座的2型三等位基因模式的构型，这将有助于理解全球人群中TPOX基因座的2型三等位基因模式。
Tri-allelic patterns can occasionally be observed during the profiling of short tandem repeats (STRs) in routine forensic practice. In previous studies, the Type 2 tri-allelic pattern at TPOX has been widely studied in African and Brazilian populations. In this study, we investigated the incidence, rearrangement, and inheritance of the Type 2 tri-allelic pattern at the TPOX locus in a Chinese Han population. The frequency of the Type 2 pattern at TPOX was approximately 0.0189%, and the major extra allele was allele 11 in the Chinese Han population. Two major allelic combinations, 8/11 and 11/12, were observed, which are different from the configuration of that in both African and Brazilian populations. Tight linkage between alleles 11 and 12 was observed in the majority of the Type 2 pattern at TPOX in the Chinese Han population, while the location of the extra copy on chromosome 2 was validated, which shows an identical ancestral origin. The excess allelic combination 8/11 implies a homogeneous origin and tight linkage relationship. However, the rearrangement in the Type 2 pattern with the 8/11 allelic combination remained unknown. Altogether, these results show the configuration of the Type 2 tri-allelic pattern at the TPOX locus in the Chinese Han population, which will assist in the understanding of the Type 2 tri-allelic pattern at the TPOX locus in the global population.