西北汉族人群D10S1248、D2S441、D1S1677、D9S1122、D10S1435等5个miniSTR基因座的遗传多态性及其法医学应用

Polymorphism and forensic applications of miniSTR loci D10S1248,D2S441,D1S1677,D9S1122,and D10S1435 in Northwestern Han population

为了调查D10S1248、D2S441、D1S1677、D9S1122、D10S1435等5个miniSTR(mini short tandem repeats)基因座在西北汉族人群中的遗传多态性、遗传稳定性及其在陈旧降解检材中的法医学应用价值,文章采用荧光PCR和基因分型技术对西北汉族154份无关个体血样、10个家系血液样本及10份陈旧降解检材进行片段长度分析。在西北汉族人群中,5个miniSTR基因座分别检测出了8、7、7、6、7个等位基因,等位基因频率分布符合Hardy-Weinberg平衡定律,杂合度(Heterozygosity,H)为0.662～0.792,个人识别率(Power of discrimination,PD)为0.869～0.915,非父排除率(Power of exclusion,PE)为0.382～0.585,多态信息含量(Polymorphism information content,PIC)为0.650～0.750。家系和陈旧降解检材的研究表明,5个miniSTR基因座具有高度的遗传稳定性,可对陈旧降解检材DNA进行有效的分型。5个miniSTR基因座适合作为西北汉族人群的遗传标记,用于陈旧降解检材的法医学个人识别和亲权鉴定案件中。

To investigate the polymorphism, genetic stability and the value for analysis degraded samples of D10S1248/ D2S441/DISI677/D9S1122/D10S1435 five loci in northwestern Hun population. The lengths of fragments were analyzed by fluorescence PCR and ABI310 Genetic Analyzer. Samples from 154 unrelated northwestern Hun individuals, 10 genealogies and 10 highly degraded specimens were genotyped. Among the 154 unrelated northwestern Han individuals, we discovered 8, 7, 7, 6, and 7 alleles in the five miniSTR loci, respectively. The frequency distributions in the loci showed no deviations from Hardy-Weinberg equilibrium expectations. The H is at 0.662-0.792, PD is at 0.869-0.915, PE is at 0.382-0.585, and PIC is at 0.650-0.750.The research of genetic stability and the value for analysis degraded sample indicated that the five miniSTR loci had high genetic stability and could analysis the degraded samples effectively. Therefore, these 5 miniSTR loci can be used as genetic markers of Northwestern Han populations in forensic practice involving individual identification and paternity testing from degraded DNA samples.