遗传因素及环境因素对唇腭裂畸形发生的影响  

Effects of factors genetic and environmental on cleft palate

作　　者：耿宏[1] 黄迪炎[1] 

机构地区：[1]解放军济南军区总医院口腔科,山东省济南市250031

出　　处：《中国临床康复》2003年第6期948-949,共2页Chinese Journal of Clinical Rehabilitation

摘　　要：唇腭裂是一种较为常见的先天性发育畸形,它涉及到多种多样的基因因素及环境因素,倾向于继发的基因—环境的相互作用造成的。目前已经发现并鉴定出染色体上有5个区域出现异常,就会发生较高频率的唇腭裂。此外,有报道转化生长因子TGF-α、MSX1、TGF-β3、RARA等也显示了与人类裂隙发生的相关性。利用AXB/BXA近交系小鼠进行致畸因子敏感区域的基因组扫描,鉴定出16个敏感区域,其中一个非常接近MSX1基因区域。只有MSX1、TGF-β3及Ap-23种基因不仅在小鼠胚胎头面部发育时期有表达,敲除该基因后,小鼠会出现唇腭裂。腭裂的发生与环境因素也有密切的关系,使妊娠早期的大鼠处于营养缺乏的饲养环境,可以导致仔鼠先天性腭裂。能引发胚胎发生唇腭裂的母体刺激因子常见的有酒精、烟草及最近越来越多的农药如四氯二苯二恶英、维甲酸、糖皮质激素等因素。此外,如果母亲长期使用苯妥英类、丙戊酸和镇静剂类药物,同样能导致婴儿出现唇腭裂。因此机体正常代谢途径的紊乱同样在唇腭裂的发生机制中起重要的作用。胚胎期来自母体的营养及毒力因素,可能是导致唇腭裂发生的第3种原因。Cleft palate is congenital structural abnomalies. The etiology of cleft palate is complex, including multiple genetic and environmental factors. Their frequant occurrence as well as their extensive psychological, surgical, speech and dental involvement emphasize the importance of understanding the underlying cause.Recent reviews of birth defects secondary to chromosomal anomalies identified five regions in which there was a significantly higher frequency of cleft palate associated with either specific deletions than would be expected from the background frequency. Other genes/loci showing association include TGF α,MSX1,TGF β3,RARA in cleft palate Insertions and targeted knockouts in the mouse have now been generated.These are list in the transgenic database as including cleft palate.The three examples to date are the MSX1,Tgf β3 and Ap 2 knockouts, in which gene expression supports a role in craniofacial development and the knockouts result in cleft. An environmental component to cleft palate was recognized when associated nutritional deficiencies with cleft palate. Recognized teratogens that cause cleft palate include rare exposures, such as phenytoin, valproic acid and thalidomide, and also common environmental exposures, such as maternal alcohol or cigarette use and, more recently, pesticides such as dioxin. The exposures are important in that they can suggest metabolic pathways whose disruption may play a role in the development of cleft palte.

关 键 词：遗传因素 环境因素 唇腭裂畸形 发生 影响 

分 类 号：R782.21[医药卫生—口腔医学]