胚胎植入前遗传学诊断研究进展

摘要

In the past 20 years,molecular genetic technology has developed rapidly.The leap forward development of single-cell genetic diagnosis technologies represented by whole genome amplification combined with microarray technology or next-generation sequencing not only increased the accuracy of preimplantation genetic diagnosis (PGD) but also greatly expanded the variety and scope of detectable diseases.This paper systematically reviews the clinical application of PGD as well as recent progress of related technologies.%20年来,分子遗传检测技术发展迅猛,以全基因组扩增结合微阵列或下一代基因测序技术为代表的单细胞遗传诊断技术取得了跨越式发展,不仅增加了植入前遗传学诊断(preimplantation genetic diagnosis,PGD)的准确率,也极大拓展了可检测的疾病种类和范围,PGD领域的技术进展和临床应用研究日益生机蓬勃.本文针对PGD的临床应用与相关技术的进展进行系统综述.