变性高效液相色谱法快速诊断21三体综合征

Rapid diagnosis of trisomy 21 syndrome by denaturing high-performance liquid chromatography

目的用变性高效液相色谱法(DHPLC)分析三体综合征患者的双链DNA,快速产前诊断21三体综合征。方法根据所设计的引物对21号染色体D21S11、D21S1411和D21S1412共3个短串联重复序列(STR)位点进行PCR扩增,然后在50℃柱温条件下用DHPLC对PCR扩增产物进行检测和分析。结果健康对照者D21S11、D21S1411和D21S1412的DHPLC峰形呈现一个或两个高低相同的波峰,21三体综合征患者的DHPLC峰形呈现两个高低不同的波峰,且其中一个波峰高度接近为另一个波峰的2倍。结论 DHPLC具有灵敏度高、特异性强、简便快捷等,适合广泛应用于21三体综合征的快速诊断。

Objective To detect the double DNA of trisomy 21 syndrome patients by denaturing high-performance liquid chromatography（DHPLC）in order to rapidly diagnose trisomy 21 syndrome.Methods To amplify DNA fragments of three short tandem repeats of D21S111,D21S1411 and D21S1412using corresponding primers.Then DHPLC was introduced to analyze the DNA fragments in the temperature of 50 ℃.Results DHPLC elution profiles of D21S111,D21S1411 and D21S1412of normal control showed one peak or two peaks with the same altitude.However DHPLC elution profiles of 21 trisomy syndrome patients showed two peaks of different altitudes,which one′s altitude was twice than another.Conclusion DHPLC is a sensitive,convenient,automatic and highly-efficient method to diagnose trisomy 21 syndrome and can be widely used in the clinic diagnosis.