Jugessur Astanand, Murray Jeffrey C
Department of Paediatrics, University of Iowa, Iowa City, IA 52242, USA.
Curr Opin Genet Dev. 2005 Jun;15(3):270-8. doi: 10.1016/j.gde.2005.03.003.
Orofacial clefts are common birth defects of multifactorial etiology. Several novel approaches have recently been applied to investigate the causes of clefts. These include examining Mendelian forms of clefting to identify genes that might also be implicated in isolated clefting, analyzing chromosomal rearrangements in which clefting is part of the resultant phenotype, studying animal models in which clefts arise either spontaneously or as a result of mutagenesis experiments, exploring how expression patterns correlate with gene function and examining the effects of gene-environment interactions. Together, these complementary strategies are providing researchers with new clues as to what mechanisms underlie orofacial clefting.
颌面裂是多因素病因导致的常见出生缺陷。最近有几种新方法被应用于研究腭裂的病因。这些方法包括研究孟德尔式腭裂形式以识别可能也与散发性腭裂有关的基因，分析以腭裂为最终表型一部分的染色体重排，研究腭裂自发出现或作为诱变实验结果出现的动物模型，探索表达模式如何与基因功能相关联，以及研究基因 - 环境相互作用的影响。总之，这些互补策略正在为研究人员提供关于颌面裂潜在机制的新线索。
