高通量检测技术在植入前胚胎遗传学诊断中的应用

Application of the High-throughput Technologies in Preimplantation Genetic Diagnosis

基因芯片和深度测序是两大最重要的高通量检测技术,给生物学和医学研究带来巨大的变化,在功能基因组、系统生物学、药物基因组的研究和遗传疾病诊断中得到了广泛的应用。随着全基因组扩增技术的不断改良,高通量技术在辅助生殖植入前遗传学诊断(PGD)中的应用有了巨大的进展。基于微阵列技术的胚胎全染色体组非整倍体筛查及结构异常的PGD已经开始临床应用,PGD/植入前遗传学筛查(PGS)后的临床妊娠率和胚胎植入率显著提高;基于单细胞高通量测序技术的染色体非整倍体及单基因病诊断的临床试验也已见报道,并有希望在不久的将来走向临床应用。

Gene chips and deep sequencing,as two most important high-throughput genomics technologies, have been widely used in many areas of biomedical research,including functional genomics,systems biology, pharmacogenomics and diagnostics. With the advent of modified whole genome amplification technologies ,it has been promoted to apply the high-throughput technologies in preimplantation genetic diagnosis （PGD）. Based on the microarray technology, two technologies, the whole chromosomes set screening and the PGD with chromosomal structural analysis, have been introduced into clinical practice. The clinical pregnancy and embryo implantation rate after preimplantation genetic screening （PGS） or PGD have been significantly improved. Furthermore,two new technologies based on the single cell high-throughput sequencing, the chromosomal aneuploidy detecting and the single gene disease PGD,have been reported. It is hopeful that these new technologies be applied to the clinic in the near future.