基于中国汉族人群的快速突变Y-STR基因座进行男性个体识别的研究

目前常用的Y-STR分型体系因不同父系男性个体之间可能的共有单倍型的存在及同一父系男性个体之间单倍型相同的特点，个体识别证据价值较低，仅侧重于排查。本研究拟针对非重组Y染色体区域（NRY）全序列，搜寻适于中国汉族男性群体的≥20个突变率高于1.0×10-2/代的快速突变（rapidly mutating，RM）Y-STR基因座；构建多重荧光标记复合扩增RM Y-STR分型体系；对1000个中国汉族三代或三代以上无关家系的父系男性个体进行RM Y-STR分型并与Yfiler对比；评估RM Y-STR体系对不同父系男性个体的识别能力和同一父系男性个体的区分能力；探讨该体系应用于性犯罪案件混合斑等物证检验的结果解释和应用策略。本研究对打破Y-STR的法医学应用局限有突破性意义，将显著提高Y-STR的男性个体识别能力，更有效地发挥Y-STR分型的证据价值，促进法医物证DNA检验技术的发展。

Because the common haplotype may be shared by the males from different paternal lineages and the identical haplotype will be shared by all the males from the same paternal lineages, the evidential power of match for the current available Y-STR sets is relatively low and its forensic value is mainly exclusion. The proposal is planned to aim the whole genome sequence of the non-recombining portion of the Y-chromosome (NRY) and screen ≥20 rapid mutating (RM) Y-STR loci with the mutation rate higher than 1.0×10-2/generation in Chinese Han male population. The fluorescent labeled multiplex RM Y-STR typing system is to be established. The males from 1000 unrelated Chinese Han paternal lineages with three or more generations will be typed using the developed RM Y-STR system and compared with Yfiler system. The capability of the RM Y-STR system to discriminate the males from different paternal lineages and the same paternal lineage is to be evaluated. The study will also discuss the ways of interpreting the RM Y-STR typing results and draw up a guideline to the strategy of RM Y-STR system using in forensic casework. The study will evolutional break the current limitations of Y-STR analysis in forensic genetics, significantly increase its resolution capability of male identification and provide a promising solution for better applications of Y-STR for identity testing, which will improve the DNA typing in forensic investigations.