Bittel Douglas C, Kibiryeva Nataliya, O'Brien James E, Lofland Gary K, Butler Merlin G
Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, 2401 Gillham Rd., Kansas City, MO 64108, United States.
Section of Cardiovascular and Thoracic Surgery, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO, United States.
Prog Pediatr Cardiol. 2005 Jul;20(2):127-141. doi: 10.1016/j.ppedcard.2005.04.004. Epub 2005 Jun 9.
Developmental abnormalities of the heart are the underlying cause of many congenital heart malformations. The embryological development of the integrated cardiovascular tissue is the result of multiple tissue and cell-to-cell interactions involving temporal and spatial events under genetic control. Recent technological advances, like microarray analysis of gene expression, are providing new tools to aid in deciphering the complex networks of gene expression that regulate cardiac development. Here, we review our current understanding of the genetics of congenital heart disorders with emphasis on gene expression studies and report preliminary data from infants with conotruncal defects. We report our microarray analysis showing over- and underexpression of individual genes and gene network interactions from dysplastic pulmonic tissue from two infants with tetralogy of Fallot compared with normal pulmonic tissue from an unaffected control infant.
心脏发育异常是许多先天性心脏畸形的根本原因。整合心血管组织的胚胎发育是多种组织以及细胞间相互作用的结果，这些相互作用涉及在基因控制下的时空事件。最近的技术进步，如基因表达的微阵列分析，正在提供新工具，以帮助解读调节心脏发育的复杂基因表达网络。在此，我们综述了目前对先天性心脏病遗传学的理解，重点是基因表达研究，并报告了患有圆锥干缺陷婴儿的初步数据。我们报告了我们的微阵列分析结果，显示与一名未受影响对照婴儿的正常肺组织相比，两名法洛四联症婴儿发育异常的肺组织中个别基因的表达上调和下调以及基因网络相互作用。
