多重置换扩增技术在植入前遗传学诊断中的应用

Multiple Displacement Amplification and It’s Application in Preimplantation Genetic Diagnosis

多重置换扩增技术(MDA)是基于环状滚动扩增的全基因组扩增技术,具有高扩增效率和高保真性等特点。尽管用于单细胞扩增时存在某些缺陷,但其在胚胎植入前遗传学诊断(PGD)实验研究和临床应用中仍取得巨大进展。MDA联合常规PCR技术已成功用于PGD的临床诊断,实现了单次胚胎活检、单个胚胎细胞的性别、部分单基因病的同步诊断。

The multiple replacement amplification technical （MDA） is a kind of the whole genome amplification （WGA） which based on strand displacement amplification. It has higher amplification efficiency rate and fidelity characteristics and so on. Although it is ued in the single cell amplification except a little defects, it has acquired great progress in the practice research and clinical application of preimplantation genetic diagnosis （PGD）. MDA has succeed in PGD when combined with standard PCR method. It makes master synchronism diagnosis of single test embryo biopsy, the single embryo cell gender and monogenic disorder come ture. MDA has impelled rapid development of PGD technology.