Waiyawuth W, Zhang L, Rittner C, Schneider P M
Institute of Legal Medicine, Johannes Gutenberg University, Mainz, Germany.
Forensic Sci Int. 1998 Jun 8;94(1-2):25-31. doi: 10.1016/s0379-0738(98)00035-8.
Genomic DNA samples from 222 individuals from Southern China, 154 individuals from Thailand, 100 individuals from Japan as well as from 124 German individuals were analysed for the short tandem repeat (STR) locus D12S391. Typing was carried out by polymerase chain reaction (PCR) amplification and subsequent polyacryramide gel electrophoresis and silver staining. In total, 12 alleles could be distinguished in two of the populations. Among Chinese, allele 19 is the most common with a frequency of 0.225, and among Germans, allele 18 with a frequency of 0.186. In the Thai population only 11 alleles could be distinguished and allele 19 is the most common with a frequency of 0.198. In Japanese, two previously unknown alleles 27 and 28 were detected, 14 alleles could be distinguished, and allele 18 is the most common with a frequency of 0.295. The expected exclusion chance for Chinese, Thai, Japanese and Germans in paternity cases is 0.67, 0.71, 0.67 and 0.75, respectively, and the discrimination power in identification cases is 0.95, 0.96, 0.95 and 0.97, respectively. Testing of the observed genotype distributions for Hardy-Weinberg equilibrium did not reveal any significant deviations. Segregation studies of 124 meioses among German families did not reveal any mutations at the D12S391 locus. In casework studies two variant alleles were detected with a trimeric repeat each (17.3 and 18.3), which have been confirmed by sequencing.
对来自中国南方的222名个体、泰国的154名个体、日本的100名个体以及124名德国个体的基因组DNA样本进行了短串联重复序列（STR）基因座D12S391分析。通过聚合酶链反应（PCR）扩增，随后进行聚丙烯酰胺凝胶电泳和银染进行分型。在两个群体中总共可区分出12个等位基因。在中国人群中，等位基因19最为常见，频率为0.225；在德国人群中，等位基因18最为常见，频率为0.186。在泰国人群中只能区分出11个等位基因，等位基因19最为常见，频率为0.198。在日本人群中，检测到两个先前未知的等位基因27和28，可区分出14个等位基因，等位基因18最为常见，频率为0.295。在亲子鉴定案例中，中国、泰国、日本和德国人群的预期排除率分别为0.67、0.71、0.67和0.75，在个体识别案例中的鉴别力分别为0.95、0.96、0.95和0.97。对观察到的基因型分布进行哈迪-温伯格平衡检验未发现任何显著偏差。对德国家庭中的124个减数分裂进行的分离研究未发现D12S391基因座有任何突变。在实际案例研究中检测到两个变异等位基因，每个都有一个三聚体重复序列（17.3和18.3），已通过测序得到证实。
