González-González M C, García-Hoyos M, Trujillo M J, Rodríguez de Alba M, Lorda-Sánchez I, Díaz-Recasens J, Gallardo E, Ayuso C, Ramos C
Department of Genetics, Fundación Jiménez Díaz, Madrid, Spain.
Prenat Diagn. 2002 Oct;22(10):946-8. doi: 10.1002/pd.439.
Maternal plasma and serum are being used to detect fetal DNA by PCR in order to determine certain conditions such as fetal gender and RhD without invasive procedures. Because of the presence of maternal DNA in plasma, these approaches are limited to paternally inherited disorders or those de novo present in the fetus. We have assessed the possibility of performing the detection of a single-gene disorder such as a fetal paternally inherited Cystic Fibrosis mutation (Q890X) in maternal plasma.
The analysis was performed at 13 weeks of gestation using DNA extracted from maternal plasma. We used a PCR amplification of the Q890X mutation and a posterior restriction analysis of the PCR product.
We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation.
We have made evident the possibility of detecting an inherited paternal mutation in a non-invasive way at the 13t(hr) weeks of pregnancy. This methodology could be very useful in cases of paternally inherited dominant disorders. The technical improvements in fetal DNA detection and analysis might lead to the development of new applications in the non-invasive prenatal diagnosis field.
目前正在通过聚合酶链反应（PCR）利用母体血浆和血清来检测胎儿DNA，以便在不进行侵入性操作的情况下确定某些情况，如胎儿性别和RhD血型。由于血浆中存在母体DNA，这些方法仅限于检测父系遗传疾病或胎儿中新出现的疾病。我们评估了在母体血浆中检测单基因疾病（如胎儿父系遗传的囊性纤维化突变Q890X）的可能性。
在妊娠13周时，使用从母体血浆中提取的DNA进行分析。我们对Q890X突变进行了PCR扩增，并对PCR产物进行了后续的限制性分析。
我们能够检测到突变的存在，从而确定胎儿为父系突变携带者的情况。
我们已经证明在怀孕第13周时以非侵入性方式检测父系遗传突变的可能性。这种方法在父系遗传的显性疾病病例中可能非常有用。胎儿DNA检测和分析技术的改进可能会导致非侵入性产前诊断领域新应用的发展。
