Ren Yixin, Qiao Jie, Yan Liying
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Third Hospital, Peking University; Key Laboratory of Assisted Reproduction, Ministry of Education; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):443-447. doi: 10.3760/cma.j.issn.1003-9406.2017.03.030.
More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.
已发现7000多种单基因疾病，其中大多数缺乏有效的治疗方法。作为产前诊断的早期形式，植入前基因诊断（PGD）是体外受精与基因诊断的结合。PGD已在临床应用20多年，通过分析发育早期的胚胎来避免遗传缺陷的传递。本文对单基因疾病PGD的最新进展进行综述。
