单管多重QF-PCR体系的构建以及在快速诊断唐氏综合征中的应用

Development of a single-tube multiple QF-PCR system for diagnosis of trisomy 21 syndrome

目的唐氏综合征是一种常见的先天性染色体畸变,大部分患者可存活至成年,对患者家庭及社会造成沉重的负担。核型分析法是广泛采用的鉴别唐氏综合征的方法,然而核型分析法需要对所采集的细胞进行培养和处理,所需时间多在2-4w,耗时较长。本文的目的为开发出一种结合STR分型的单管多重QF-PCR体系,用于对唐氏综合征的快速诊断。方法选择多态性较好的STR基因座为构建本体系的基础,通过合成通用引物序列完成体系的构建。结果在使用经染色体核型分析结果确认的检材提取DNA样本验证实验证明,本体系可成功区分出正常个体与唐氏综合征患者个体。结论本体系可用于常规胎儿产前诊断中初步对胎儿染色体核型进行判断,以防止细胞培养失败造成的染色体核型分析失败。

Objective： Trisomy 21 syndrome is a common hereditary disease. Most Trisomy 21 syndrome carriers could survival to adult, and patients＇ families bear a heavy burden. The karyotype analysis is a common diagnostic test for chromosomal abnormalities, typically takes 2-4 weeks. The purpose of this study was to develop a type of QF-PCR reagent for diagnosis of trisomy 21 syndrome. Methods： STR loci with high polymorphism in chromosome 21 were selected for the system, and universal primers were designed. Results： The karyotype analysis verified samples were selected to extract DNA. Application of DNA analysis with the QF-PCR system, the results was the same as the karyotype analysis. Conclusion： This QF-PCR system is suitable for preliminary clinical of trisomy 21 in prenatal diagnosis, which reduce the risk of failure of the amniotic fluid culture.