4个Y-STR基因座的多态性及其法医学应用的研究

通过荧光标记引物结合ABI377型全自动DNA测序仪检测自动分型方法对中国壮族及汉族人群中各100例无关男性个体的 A10、C4、A7.1、A7.2等4个Y染色体特异的基因座的等位基因及单倍型的分布进行了调查。结果发现 A10、C4、A7.1 A7.2基因座分别有7、6、6、6个等位基因，基因多样性（GD）分别为0.7776/0.629(壮/汉）、0.773/0.732、0.5978/0.7272、0.6664/0.6458。在200个观察样本中共发现114种单倍型（haplotype），单倍型多样性(haplotype diversity,ID）分别为0.9786/0.9772(壮/汉)。通过测序确认基因座核心重复序列及等位基因核心序列重复数。建立了这4个基因座的复合扩增体系，分型准确清晰。还对这4个基因座的男性特异性、遗传稳定性、灵敏度等法医学有关指标进行了考察并且在实际案例中进行了应用，结果证明，这4个Y-STRs基因座非常适应于法医检验，具有较高的实用价值。

The Polymorphism of Four Y-STR Loci and Its Application in Forensic Medicine

We have obtained the alleles and haplotype distribution of 100 unrelated males from the Chinese Han and Zhuang populations at the four Y chromosome specific loci A10, C4, A7.1, A7.2 by fluorescent primers and with 377 DNA sequencer. We observed 7, 6, 6, 6 alleles in loci A10, C4, A7.1, A7.2 respectively, the gene diversity (GD) values are 0.7776/0.629, 0.773/0.732, 0.5978/0.7272, 0.6664/0.6458 (Zhuang/Han). 114 haplotypes were found in 200 males, haplotype diversity (HD) values are 0.9786 ? 0.9772 (Zhuang/Han). We have confirmed the core repeats and its repeating number of these alleles by sequencing.A tetraplex PCR system consisting of the A10, C4, A7.1 and A7.2 loci was set up and it is of good specificity. We investigated the validation at these four Y STRs loci in forensic application such as the male specificity, genetic stability and the sensitivity. In conclusion, the four Y STRs loci are very suitable to forensic medicine analysis and paternity test.