中文摘要：

目的建立基于pyrosequencing和Pooling技术进行SNP位点的法医学多态性分析技术。方法对50名无关个体样本建立一适合pyrosequencing检测的组池;采用PyroMark Assay Design 2.0软件进行SNP位点等位基因定量分析的引物设计;对组池样本PCR产物进行焦磷酸测序检测。结果检测的3个SNP位点多态性良好,其中位点rs220028与以往人群调查后频率数据无显著差异。结论采用pyrosequencing和Pooling技术对SNP位点进行多态性分析,适合于位点的初筛及大规模群体调查。该技术准确可靠,方便快捷。

英文摘要：

Objective To establish a method for SNP polymorphism analysis based on pyrosequencing and pooling technology. Methods A sample pooling of 50 unrelated individuals was set up for pyrosequencing testing. PyroMark Assay Design 2.0 soft- ware was adopted to design primer for allelic quantification. Afterwards, PCR products of the pooling samples were pyrose- quenced. Results The polymorphism of three target SNP loci was observed. Moreover, for rs220028, there is no significant dif- ference between the testing results and previous data based on population survey. Conclusion The established SNP analysis method based on pyrosequencing and pooling technology is accurate, reliable and easy to perform. It is suitable for the screen- ing and investigation of large population.