心血管畸形的遗传与发育基础
Genetic and Developmental Basis of Cardiovascular Malformations.
作者信息
Azhar Mohamad, Ware Stephanie M
机构信息
Department of Cell Biology & Anatomy, University of South Carolina School of Medicine, 6439 Garners Ferry Road, Columbia, SC 29208, USA.
Department of Cell Biology & Anatomy, University of South Carolina School of Medicine, 6439 Garners Ferry Road, Columbia, SC 29208, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA.
出版信息
Clin Perinatol. 2016 Mar;43(1):39-53. doi: 10.1016/j.clp.2015.11.002.
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multistep process of morphogenesis that is under genetic regulation. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified infrequently. This article discusses the key genetic concepts characterizing human CVMs, their developmental basis, and the critical developmental and genetic concepts underlying their pathogenesis.
心血管畸形（CVMs）是最常见的出生缺陷，在所有活产婴儿中发生率为1%至5%。遗传、表观遗传和环境因素均会影响CVMs的发育，更好地理解CVMs的病因是预防的前提。心脏发育是一个受基因调控的复杂多步骤形态发生过程。虽然基因对CVMs的影响已得到充分认识，但人类CVMs的遗传病因仍很少被确定。本文讨论了表征人类CVMs的关键遗传学概念、其发育基础以及其发病机制背后的关键发育和遗传学概念。
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