STR-PCR检测孕妇外周血浆中胎儿DNA基因型的初步研究

Analysis of fetal DNA genotype in maternal plasma using CTT multiple FCR amplification systems

目的采用短串联重复序列(STR)多态位点的复合扩增方法,研究孕妇血浆中胎儿DNA基因型。方法采用STR多态位点即CSF1PO、TPOX、TH01(简称CTT)三个位点的复合扩增方法,对30例孕妇孕中期的血浆DNA进行扩增,并对扩增产物进行变性聚丙烯酰胺凝胶电泳,银染后观察结果。结果30例孕中期的孕妇中,16例从母体血浆中检出了父源性等位基因,5例可能检出了胎儿DNA,3例未检出胎儿DNA,6例扩增失败。结论STR多态位点的复合扩增,判断基因型简便、快速,结果容易判断,费用低,可用于父源性遗传病的产前诊断。

Objective To study the fetal DNA in maternal plasma using multiplex PCR amplification of the short tandem repent (STR) systems.Methods The DNA was typed by the STR systems HUMCSF1PO, HUMTPOX and HUMTH01 (CTT triplex) from 30 pregnant maternal plasma at mid - pregnant stage. The amplified fragments were separated on denaturing PACE and visualized by silver stain.Results Among 30 pregnant women at mid- pregnant stage, 16 of 30 cases the paternal allele gene sequence were detected, 5 of 30 cases might be fetal DNA the paternal allele gene sequence, 3 of 30 cases have no fetal DNA and 6 of 30 cases failed.Conclusions The method is technically simple, fast, accurate and the typings are easy to interpret. The cost for typing is low.The technique is suitable for the diagnosis of genetic disease originated from father.