心脏先天性缺陷的遗传学

The genetics of cardiac birth defects.

作者信息

Ransom Joshua, Srivastava Deepak

机构信息

Gladstone Institute of Cardiovascular Disease and the Department of Pediatrics, University of California at San Francisco, 1650 Owens Street, San Francisco, CA 94158, United States.

出版信息

Semin Cell Dev Biol. 2007 Feb;18(1):132-9. doi: 10.1016/j.semcdb.2006.12.005. Epub 2006 Dec 20.

DOI:10.1016/j.semcdb.2006.12.005

PMID:17240175

Abstract

Congenital heart disease likely results from a complex mixture of environmental and genetic factors. Recent work has elucidated rare single gene mutations that cause a variety of cardiac defects, but the etiologies of more common disease remains unknown. Here, we review the known genetic causes of cardiac malformations and discuss future approaches for addressing sporadic congenital heart disease as a complex trait.

摘要

先天性心脏病可能是由环境因素和遗传因素的复杂组合导致的。最近的研究已经阐明了导致各种心脏缺陷的罕见单基因突变，但更常见疾病的病因仍然未知。在此，我们综述了已知的心脏畸形的遗传原因，并讨论了将散发性先天性心脏病作为复杂性状来研究的未来方法。