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Review: Whole genome amplification in preimplantation genetic diagnosis

机译:综述:全基因组扩增在植入前遗传学诊断中的作用

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摘要

Preimplantation genetic diagnosis (PGD) refers to a procedure for genetically analyzing embryos prior to implantation, improving the chance of conception for patients at high risk of transmitting specific inherited disorders. This method has been widely used for a large number of genetic disorders since the first successful application in the early 1990s. Polymerase chain reaction (PCR) and fluorescent in situ hybridization (FISH) are the two main methods in PGD, but there are some inevitable shortcomings limiting the scope of genetic diagnosis. Fortunately, different whole genome amplification (WGA) techniques have been developed to overcome these problems. Sufficient DNA can be amplified and multiple tasks which need abundant DNA can be performed. Moreover, WGA products can be analyzed as a template for multi-loci and multi-gene during the subsequent DNA analysis. In this review, we will focus on the currently available WGA techniques and their applications, as well as the new technical trends from WGA products.
机译:植入前遗传学诊断(PGD)是指在植入前对胚胎进行遗传分析的程序,可提高高风险传播特定遗传性疾病的患者受孕的机会。自1990年代初首次成功应用以来,该方法已广泛用于多种遗传疾病。聚合酶链反应(PCR)和荧光原位杂交(FISH)是PGD中的两种主要方法,但是存在一些不可避免的缺点,限制了遗传诊断的范围。幸运的是,已经开发了不同的全基因组扩增(WGA)技术来克服这些问题。可以扩增足够的DNA,并且可以执行需要大量DNA的多个任务。此外,在后续的DNA分析过程中,可以将WGA产品作为多位点和多基因的模板进行分析。在本文中,我们将重点介绍当前可用的WGA技术及其应用,以及WGA产品的新技术趋势。

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