单管多重STR分型技术在快速诊断18-三体综合征中的应用

Application of STR amplification in rapid diagnosis of trisomy 18 syndrome

目的:建立一种快速、准确,并且分析简单的基于STR分型技术的18-三体综合征诊断技术。方法:采用D18S51、D18S386、D18S391、D18S535和D18S1001为多重PCR扩增基因座,设计对应的荧光标记引物用于单管多重STR扩增分析。结果:STR分型结果在判断18-三体综合征中与常规核型分析结论相符。结论:该技术廉价、快速、操作简单,且实验过程无需人为干预,因此用于大规模样本的产前筛查。

Objective： To build a rapid,accurate and easy diagnostic method for trisomy 18 syndrome based on short tandem repeat（ STR） amplification. Methods： D18S51,D18S386,D18S391,D18S535 and D18S1001 were selected as multiplex PCR amplification loci,corresponding fluorescently-labeled primers were designed for STR amplification and analysis. Results： The results of STR in diagnosis of trisomy 18 syndrome matched the results of conventional karyotyping. Conclusion： The technology is cost-effective,rapid and easy,and the experimental process dose not need human intervention,so it can be used for large-scale prenatal screening.