›› 2012, Vol. 24 ›› Issue (1): 71-74.doi: 10.3969/j.issn.1004-616x.2012.01.017

• 检测研究 • Previous Articles     Next Articles

Application of PCR-DHPLC technology in Down's syndrome screening

ZHANG Dan-yan，MA Ming-fu，ZHANG Dan-mei，ZHU Yi－jian，LU Jing，ZHAO Le-tian，WAN Ling，HOU Zhi-wei，LI Lian-bing   

  1. 1. Population and Family Planning of Chongqing Science and Technology Research Institute/Birth Defects and Reproductive Health of the Key Laboratory of Chongqing/Chongqing Zheng-ding Judicial Identification Institute, Chongqing 400020; 2. Chongqing Real Estate College, Chongqing 401331, China
  • Received:2011-04-28 Revised:2011-07-06 Online:2012-01-30 Published:2012-01-30
  • Contact: LI Lian-bing

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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.

Key words: denaturing high performance liquid chromatography technology, Down's syndrome, D21S1409, D21S1422, D21S1435, GATA163G03