论文部分内容阅读
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。
Purpose Down Syndrome is a common congenital chromosomal aberration, most patients can survive to adulthood, causing heavy burden on patients’ families and society. Karyotyping is a widely used method to identify Down Syndrome. However, the karyotyping method needs to culture and process the collected cells, which takes 2-4 hours longer and consumes more time. The purpose of this article was to develop a single-tube multiplex QF-PCR system that incorporates STR typing for the rapid diagnosis of Down Syndrome. Methods The STR loci with better polymorphism were selected as the basis for constructing this system. The universal primer sequences were used to complete the construction of the system. Results The DNA sample verification experiments using samples confirmed by the results of karyotype analysis showed that the present system can successfully distinguish normal individuals from individuals with Down Syndrome. Conclusion The present system can be used for routine fetal prenatal diagnosis of fetal chromosome karyotype to determine the failure to prevent failure of cell culture karyotype analysis failed.