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首页> 外文期刊>International journal of immunogenetics >Novel polymorphisms in the promoter region of the perforin gene among distinct Brazilian populations and their functional impact
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Novel polymorphisms in the promoter region of the perforin gene among distinct Brazilian populations and their functional impact

机译：巴西不同人群中穿孔素基因启动子区域的新型多态性及其功能影响

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Summary: Cytotoxic T lymphocytes and natural killer cells play a crucial role in eliminating tumour and virus-infected cells. The perforin is a key part of the arsenal that these cells use to destroy their targets. In this study, we characterized single-nucleotide polymorphisms (SNPs) located in the promoter region of the perforin gene among distinct Brazilian ethnic groups. The study was carried out by sequencing this region in three groups: European, African and Asian descents. We demonstrated for the first time the occurrence of three new polymorphisms in the promoter region of gene PRF1: 494A/G (rs78058707), 720G/A (rs75925789) and 1176C/T (rs75183511). Three other SNPs already described in the literature 63A/G (rs35401316), 112A/G (rs10999428) and 1012C/T (rs35069510) were also detected. The SNPs are distributed differently in the ethnic groups studied. The 112G allele was observed at high frequency, especially among Asian descents (48.1%). The 1012T allele was detected only among European descents, the 494G allele only among Asian descents and 1176T allele only in African descents. Based on the association between the polymorphisms described, ten new haplotypes were originated. In functional analysis, we noticed that SNPs present in most common haplotypes cannot induce significant differences in expression levels of perforin alone. In conclusion, this study demonstrates for the first time the existence of three new polymorphisms in perforin promoter and, contrary to what was stated, the presence of these SNPs does not alter the levels of protein expression.
机译：简介：细胞毒性T淋巴细胞和自然杀伤细胞在消除肿瘤和病毒感染的细胞中起着至关重要的作用。穿孔素是这些细胞用来破坏其靶标的武器库的关键部分。在这项研究中，我们表征了位于巴西不同种族之间的穿孔素基因启动子区域的单核苷酸多态性（SNP）。通过对该区域进行三组测序来进行研究：欧洲，非洲和亚洲人后裔。我们首次证明了在基因PRF1的启动子区域中出现了三个新的多态性：494A / G（rs78058707），720G / A（rs75925789）和1176C / T（rs75183511）。还检测到了文献63A / G（rs35401316），112A / G（rs10999428）和1012C / T（rs35069510）中已经描述的其他三个SNP。 SNP在所研究的种族中分布不同。高频观察到112G等位基因，特别是在亚洲人后裔中（48.1％）。仅在欧洲血统中检测到1012T等位基因，仅在亚洲血统中检测到494G等位基因，仅在非洲血统中检测到1176T等位基因。基于所描述的多态性之间的关联，产生了十个新的单倍型。在功能分析中，我们注意到大多数常见单倍型中存在的SNP不能诱导穿孔素单独表达水平的显着差异。总之，这项研究首次证明了穿孔素启动子中存在三个新的多态性，并且与所陈述的相反，这些SNP的存在不会改变蛋白质表达的水平。

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