微单倍型标记以其片段短、突变率低于STR、多态性高于SNP等优点，成为一种新兴法医学遗传标记。其中由两个SNP连锁构成的微单倍型是片段最短且具有较好多态性的一种微单倍型，具有较强的应用潜力。现阶段其分型主要通过基于单链测序的大规模平行测序（MPS）技术，通量虽高但成本昂贵。课题组最早对微单倍型进行了测序研究，并且一直探索微单倍型的检测方案。前期研究中，我们通过SSCP、HRM、ARMS等多种方法进行尝试，发现ARMS结合微测序方案具有良好的分型能力。基于此我们筛选出17个SNP-SNP微单倍型遗传标记位点并成功构建出基于CE平台的检测方案。结果表明该系统对高降解检材、混合斑检材以及孕妇外周血中胎儿游离DNA具有较好的检测分型能力。本研究拟通过优化已有基础，构建含50个以上微单倍型标记的CE和NGS平台方案，获取微单倍型的群体遗传学特征，并进一步检验其在法医学实践中的应用价值。

Micro-haplotype has become a new promising forensic genetic marker because of its advantages of short fragment, lower mutation rate than STR, and higher polymorphism than SNP. The micro-haplotype composed of two SNPs indicates strong application potential because of the shortest fragment and good polymorphism. Nowadays the genotyping of this kind of marker is mainly relied on single-strand large-scale parallel sequencing (MPS) technology. MPS is highly productive but also very expensive. Our team conducted sequencing research on micro-haplotypes at previous time and is still exploring new detection schemes. In the previous research, we tried various methods such as SSCP, HRM, and ARMS, and found that ARMS technique combined with microsequencing has good typing ability. Based on this, we screened 17 SNP-SNP micro-haplotype genetic markers and successfully constructed a detection system based on CE platform. The results showed that this panel performed well in detecting highly degraded samples, mixtures and fetal free DNA in peripheral blood of pregnant women. This study intends to optimize current detecting system, construct a panel contains more than 50 micro-haplotype markers based on CE and NGS platform, obtain population data of micro-haplotypes, and further explore the application ability in forensic routines.