Becker Dorit, Bender Klaus, Edelmann Jeanett, Götz Frank, Henke Lotte, Hering Sandra, Hohoff Carsten, Hoppe Karolin, Klintschar Michael, Muche Matthias, Rolf Burkhard, Szibor Reinhard, Weirich Volker, Jung Martin, Brabetz Werner
Biotype AG, Moritzburger Weg 67 D, 01109 Dresden, Germany.
Forensic Sci Int Genet. 2007 Dec;1(3-4):232-7. doi: 10.1016/j.fsigen.2007.04.001. Epub 2007 May 31.
The molecular origin of DNA mutations and the mutation rates were analyzed at 14 short tandem repeat (STR) loci with samples from trio cases derived from 10 different German population samples. STR loci comprised of D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D19S246, D20S480, D21S226, and D22S689. In a total of 488 meioses, 16 isolated genetic inconsistencies in 8 different STRs were observed, whereas no mutations were found at the other loci. The data of five mutations suggested the presence of silent or null alleles due to sequence variation in primer binding site. This could be confirmed for four suspected cases by the use of alternative primer sets and by DNA sequence analyses. Furthermore, this study revealed nine new allelic variants at five different loci.
利用来自10个不同德国人群样本的三联体病例样本，对14个短串联重复序列（STR）位点的DNA突变分子起源和突变率进行了分析。STR位点包括D2S1360、D3S1744、D4S2366、D5S2500、D6S474、D7S1517、D8S1132、D10S2325、D12S391、D18S51、D19S246、D20S480、D21S226和D22S689。在总共488次减数分裂中，在8个不同的STR中观察到16个孤立的遗传不一致，而在其他位点未发现突变。五个突变的数据表明，由于引物结合位点的序列变异，存在沉默或无效等位基因。通过使用替代引物组和DNA序列分析，在四个疑似病例中证实了这一点。此外，本研究在五个不同位点发现了九个新的等位基因变体。
