de Andrade Edilene Santos, Gomes Adriana Vieira, Raposo Glória, Mauricio-da-Silva Luiz, Silva Rosilda dos Santos
Department of Genetics, Biological Sciences Center, Federal University of Pernambuco, Av. Prof. Moraes Rego s/n, Cidade Universitária, 50732-970 Recife, PE, Brazil.
Forensic Sci Int Genet. 2009 Sep;3(4):e141-3. doi: 10.1016/j.fsigen.2008.11.011. Epub 2009 Jan 8.
Definition about mutation rates of short tandem repeats (STRs) loci used in forensic analysis are useful for the correct interpretation of resulting genetic profiles and the definition of criterions for exclusion in paternity testing. Germline mutation of 14 STR loci was studied for 54,105 parent-child allelic transfers from 2575 paternity testing cases carried out during 2000-2007 from the Pernambuco State, Northeast Brazil. The parenthood in each of these cases was highly validated (probability > 99.99%). We identified 43 mutations at 12 loci. Locus-specific mutation rate estimates varied between 2 x 10(-4) and 2 x 10(-3), and the overall mutation rate estimate was 8 x 10(-4). Mutation events in the male germline were more frequent than in the female germline. The majority of the mutations could be explained by losses or gains of one repeat unit and there was no evidence for selection between insertion or deletion changes. Our data were compared with those of Portuguese and North-American populations for CSF1PO, D18S51, D21S11, D7S820, TH01, TPOX and demonstrated, despite the great difference in the size of the sample, that mutation rates of STR loci in a mixed population do not differ from that encountered in different populations.
法医分析中使用的短串联重复序列（STR）基因座突变率的定义，对于正确解读所得的基因图谱以及确定亲子鉴定中的排除标准很有用。对巴西东北部伯南布哥州2000年至2007年期间进行的2575例亲子鉴定案例中的54,105次亲子等位基因传递，研究了14个STR基因座的种系突变。这些案例中的每一例亲子关系都经过了高度验证（概率>99.99%）。我们在12个基因座上鉴定出43个突变。基因座特异性突变率估计值在2×10⁻⁴至2×10⁻³之间，总体突变率估计值为8×10⁻⁴。男性生殖系中的突变事件比女性生殖系中更频繁。大多数突变可以用一个重复单元的丢失或增加来解释，并且没有证据表明在插入或缺失变化之间存在选择。我们将我们的数据与葡萄牙和北美人群关于CSF1PO、D18S51、D21S11、D7S820、TH01、TPOX的数据进行了比较，结果表明，尽管样本量差异很大，但混合人群中STR基因座的突变率与不同人群中遇到的突变率没有差异。
