癌变·畸变·突变2012，Vol.24Issue(1)：71-74,4.DOI:10.3969/j.issn.1004-616x.2012.01.017
聚合酶链式反应-变性高效液相色谱技术在唐氏综合征筛查中的应用
Application of PCR-DHPLC technology in Down's syndrome screening
摘要
Abstract
OBJECTIVE: To evaluate the use of polymerase chain reaction-denaturing high performance liquid chromatography technology (PCR-DHPLC) in Down syndrome screening. METHODS: Primers of D21S1409, D21S1422, D21S1435 and GATA163G03 loci on chromosome 21 were designed. The samples of the children with Down's syndrome or the normal ones were amplified using PCR method. The PCR amplification products were identified by denaturing high performance liquid chromatography technology. At the same time the same samples were analyzed with karyotyping, to evaluate the accuracy of PCR-DHPLC. RESULTS: The column temperature was 50 ℃ , the Down syndrome samples showed specific DHPLC peak of Down syndrome. CONCLUSION: The PCR-DHPLC method edmonstrated high sensitivity and specificity. It could be used in high-throughput rapid screening for Down's syndrome.关键词
变性高效液相色谱/唐氏综合征/D21S 1409/D21S1422/D21S1435/GATA163G03Key words
denaturing high performance liquid chromatography technology/ Down's syndrome/ D21S1409/ D21S1422/ D21S1435/ GATA163G03分类
医药卫生引用本文复制引用
张丹妍,马明福,张丹媚,朱一剑,吕静,赵乐天,万凌,侯志伟,李练兵..聚合酶链式反应-变性高效液相色谱技术在唐氏综合征筛查中的应用[J].癌变·畸变·突变,2012,24(1):71-74,4.基金项目
出生缺陷与生殖健康重庆市市级重点实验室开放课题(0802) （0802）
重庆市科委项目(2008AC0039 （）
CSTC,2009CA5001) （）
