Findlay I, Tóth T, Matthews P, Marton T, Quirke P, Papp Z
Institute of Pathology, Leeds University, UK.
J Assist Reprod Genet. 1998 May;15(5):266-75. doi: 10.1023/a:1022536309381.
Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. This requires lengthy laboratory procedures and high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid and inexpensive and may potentially be suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction (F-PCR) using polymorphic small tandem repeats (STRs).
In this paper we present data demonstrating that fluorescent PCR amplification of STRs can be used for rapid diagnosis of trisomy 21, trisomy 18, and trisomy 13 and can be successfully applied to both prenatal diagnosis and diagnosis of single cells. This study also reports significant numbers of prenatal diagnoses using quantitative fluorescent PCR.
We believe that further studies of greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for trisomy diagnosis from single cells using multiple STR markers for either preimplantation genetic diagnosis or, potentially, diagnosis from fetal cells isolated from maternal blood.
胎儿三体的产前诊断通常通过羊水细胞遗传学分析来进行。这需要漫长的实验室操作流程且成本高昂，不适用于对孕妇进行大规模筛查。另一种方法是使用多态性小串联重复序列（STR）的荧光聚合酶链反应（F-PCR），该方法快速且成本低廉，甚至有可能适用于从单个胎儿细胞诊断三体。
在本文中，我们展示的数据表明，STR的荧光PCR扩增可用于快速诊断21三体、18三体和13三体，并且能够成功应用于产前诊断和单细胞诊断。本研究还报告了使用定量荧光PCR进行大量产前诊断的情况。
我们认为，对更多样本进行进一步研究将确定该技术的绝对可靠性。这些结果还为使用多个STR标记从单细胞进行三体诊断提供了一个模型，可用于植入前基因诊断，或者潜在地用于从母血中分离的胎儿细胞进行诊断。
