Shanghai Key Laboratory of Forensic Medicine, Shanghai, 200063, PR China.
Int J Legal Med. 2012 Jul;126(4):659-64. doi: 10.1007/s00414-011-0664-4. Epub 2012 Jan 13.
Allele frequencies and forensic statistics of 21 autosomal short tandem repeat loci (i.e., D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435 and D5S2500) were estimated in Han population from northern China (n = 220). Significant deviation from Hardy-Weinberg equilibrium was detected only for D22S1045. The observed heterozygosity, the expected heterozygosity, the discrimination power, the probability of paternity exclusion in trios, the probability of paternity exclusion in duos and the polymorphic information content ranged from 0.591 to 0.836, 0.594 to 0.830, 0.762 to 0.948, 0.341 to 0.659, 0.189 to 0.487 and 0.535 to 0.807, respectively. Triallelic patterns were observed at D19S433 and D10S1435. Mutations occurred at D22ATA63, D10S1248, D19S433 and D14S1434 loci with all single-step mutations. The expected mutation rates of these four loci are 0.0042 with 95% confidence interval [0.0001, 0.0232] in a total of 238 meioses. Our results show that these 21 non-CODIS STR loci are highly polymorphic and can be useful for human identification and kinship analysis in Northern Han population in China.
在中国北方汉族人群中(n=220),我们评估了 21 个常染色体短串联重复序列(D6S474、D12ATA63、D22S1045、D10S1248、D1S1677、D11S4463、D1S1627、D3S4529、D2S441、D6S1017、D4S2408、D19S433、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D2S1776、D10S1435 和 D5S2500)的等位基因频率和法医学统计数据。仅在 D22S1045 检测到与 Hardy-Weinberg 平衡的显著偏差。观察到的杂合度、预期杂合度、鉴别力、三联体排除父权的概率、二联体排除父权的概率和多态信息含量分别为 0.591 至 0.836、0.594 至 0.830、0.762 至 0.948、0.341 至 0.659、0.189 至 0.487 和 0.535 至 0.807。在 D19S433 和 D10S1435 观察到三等位基因模式。在 D22ATA63、D10S1248、D19S433 和 D14S1434 基因座发生突变,均为单步突变。这四个基因座的预期突变率为 0.0042,95%置信区间为[0.0001,0.0232],共 238 个减数分裂。我们的研究结果表明,这 21 个非 CODIS STR 基因座高度多态,可用于中国北方汉族人群的个体识别和亲缘关系分析。