胚胎植入前遗传学诊断方法的进展

胚胎植入前遗传学诊断已经在辅助生殖技术中应用十余年了。荧光原位杂交和聚合酶链式反应是胚胎植入前遗传学诊断的两大基本技术。本文综述了胚胎植入前遗传学诊断方法的一些进展 ,包括荧光聚合酶链式反应、间期染色体转换、定量聚合酶链式反应、多重聚合酶链式反应、质谱分析、全基因组扩增及DNA芯片技术等。这些技术的发展可使胚胎植入前遗传学诊断成为更广泛使用的临床工具。

Advancement in research on preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) has been used in our Human Asisted F er tility Center for over a decade. The two basic techniques currently used are p o lymerase chain reaction (PCR) and fluorescent in situ hybridization (FISH). In t his article, we reviewed advancement in technology available for PGD, including fluorescent in sit u hybridization (FISH), interphase chromosome conversion, comparative genomic hy bridization (CGH), fluorescent PCR, quantitative PCR ,multiplex PCR, spectral karyotyping (SKY) ,whole genome amplification(WGA) and DNA arrays. The development of these techniques would make PGD become a more wi dely used clinical means.