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近年来,植入前遗传学诊断(PGD)中单细胞的诊断技术有了新的飞跃,如比较基因组杂交、微阵列技术、实时荧光定量PCR等技术。其在PGD的应用越来越广泛,主要有以下几个方面:非整倍体筛查、基因型测定、基因突变、基因表达研究等,有效地检测全基因组的显微突变和亚显微突变,较传统的细胞遗传学有更高的分辨率,且具有快速、准确、灵敏度高等特点。以下就相关新技术在PGD中的应用以及存在的一些问题做一综述。
In recent years, there has been a new leap forward in the single-cell diagnosis technology of preimplantation genetic diagnosis (PGD), such as comparative genomic hybridization, microarray technology, real-time fluorescence quantitative PCR and the like. Its application in PGD is more and more widely, mainly in the following aspects: aneuploidy screening, genotyping, gene mutation, gene expression research, etc., to effectively detect the whole genome of the microscopic mutation and sub-microscopic mutation , A higher resolution than the traditional cytogenetics, and has the characteristics of fast, accurate, high sensitivity. The following is a brief account of the application of new technologies in PGD and some existing problems.