Duchenne型肌营养不良症的植入前遗传学诊断

Preimplantation Genetic Diagnosis for Duchenne Muscular Dystrophy

植入前遗传学诊断是在胚胎着床前对其遗传物质进行分析,结合体外受精和胚胎移植技术,选择正常的胚胎进行移植的一门新兴的辅助生殖技术,该技术在遗传病的诊断中占有越来越重要的地位。截至到2005年10月世界上已有1959例正常婴儿通过植入前诊断技术诞生。总结Duchenne型肌营养不良症植入前遗传学诊断的步骤和各项技术,并对其目前存在的问题和解决方法以及其应用前景进行讨论。

Preimplantation genetic diagnosis （PGD）, as a new assisted reproductive technology which can select normal embryos for transplantation combined with in-vitro fertilization and embryo transfer （IVF-ET） through the analysis of genetic materials before embryo implantation, holds a more and more important position in the diagnosis of genetic diseases. There have been 1,959 normal babies born with PGD all over the world up to October 2005. In this article, the procedures and techniques of PGD for Duchenne muscular dystrophy are summarized, and a discussion will be developed on the existing problems, solutions and its application prospects.