Millicovsky G, Ambrose L J, Johnston M C
Am J Anat. 1982 May;164(1):29-44. doi: 10.1002/aja.1001640104.
Cleft lip with or without associated cleft palate [CL(P)], one of the most common human malformations, is believed to be caused by a combination of genetic and environmental factors. To study the morphological manifestations of genetic factors in this interaction, we compared the embryonic development of the CL/Fr mouse strain (with a mean incidence of 36% spontaneous CL(P) in our colony) with that of the C57B1/6J mouse strain (with no CL(P) in our colony). Results from our scanning electron microscopic study demonstrated that, when compared with C57B1/6J embryos, CL/Fr embryos have several developmental differences including: 1) altered facial geometry, 2) depressed ability of the surface epithelium of primary-palate primordia to participate in the fusion process, and 3) variable hypoplasia of the lateral nasal prominences. We suggest that all of these alterations may contribute to the pathogenesis of CL(P) in the CL/Fr mouse strain.
唇裂伴或不伴腭裂[CL(P)]是人类最常见的畸形之一，被认为是由遗传和环境因素共同作用引起的。为了研究这种相互作用中遗传因素的形态学表现，我们将CL/Fr小鼠品系（在我们的种群中自发性CL(P)的平均发生率为36%）的胚胎发育与C57B1/6J小鼠品系（在我们的种群中无CL(P)）的胚胎发育进行了比较。我们扫描电子显微镜研究的结果表明，与C57B1/6J胚胎相比，CL/Fr胚胎有几个发育差异，包括：1）面部几何形状改变，2）原发腭原基表面上皮参与融合过程的能力降低，3）外侧鼻突不同程度的发育不全。我们认为所有这些改变可能都有助于CL/Fr小鼠品系中CL(P)的发病机制。
