国际生殖健康/计划生育 ›› 2018, Vol. 37 ›› Issue (6): 517-522.

• 综述 • 上一篇    

心血管系统单基因遗传病及其PGD的研究进展

秦萌,张喆,乔杰,智旭   

  1. 100191  北京大学第三医院妇产科生殖医学中心(秦萌,乔杰,智旭),心脏外科(张喆)
  • 收稿日期:2018-09-03 修回日期:2018-09-30 出版日期:2018-11-15 发布日期:2018-11-15
  • 通讯作者: 智旭,E-mail:zhixujp@163.com E-mail:zhixujp@163.com
  • 基金资助:
    国家自然科学基金面上项目(81671458);国家重点研发计划“生殖健康及重大出生缺陷防控研究”专项(2018YFC1002302)

Research Progress in Monogenic Diseases of Cardiovascular System and PGD

QIN Meng,ZHANG Zhe,QIAO Jie,ZHI Xu   

  1. Center for Reproductive Medicine,Department of Obstetrics and Gynecology(QIN Meng,QIAO Jie,ZHI Xu),Cardiac Surgery Department(ZHANG Zhe),Peking University Third Hospital,Beijing 100191,China
  • Received:2018-09-03 Revised:2018-09-30 Published:2018-11-15 Online:2018-11-15
  • Contact: ZHI Xu,E-mail:zhixujp@163.com E-mail:zhixujp@163.com

摘要: 很多遗传性心血管疾病存在较高的猝死风险,严重影响患者生存质量。其中由单基因缺陷引起的遗传性心血管疾病按照受累部位可以分为只累及心血管系统的单基因遗传病和累及心血管系统的综合征型单基因遗传病。在辅助生殖过程中,胚胎植入前遗传学诊断(pre-implantation genetic diagnosis,PGD)技术可以通过对植入前胚胎进行遗传学分析以挑选不携带明确遗传缺陷的胚胎进行移植,可以有效阻断单基因疾病向下一代传递。随着技术的不断进步完善,PGD在心血管系统单基因遗传病中已经有越来越多的应用。

关键词: 心血管畸形, 植入前诊断, 生殖技术, 辅助, 单基因病, 遗传阻断

Abstract: Many hereditary cardiovascular diseases with a high risk of sudden death seriously affect the life quality of patients. Those hereditary cardiovascular diseases caused by single gene defect can be classified into monogenic cardiovascular diseases and monogenic syndromic diseases with cardiovascular abnormalities, according to whether multiple organ defects are involved. Pre-implantation genetic diagnosis (PGD) technology can be used to select the embryos that do not carry the genetic defect for implantation so as to block the monogenic diseases. With the continuous improvement of technology, PGD has been applied to more and more hereditary cardiovascular disorders.

Key words: Cardiovascular abnormalities, Preimplantation diagnosis, Reproductive techniques, assisted, Monogenic disease, Genetic interruption